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
ADAMTS2_chr5_179105853_179350461	179329065	TGCCTGCA others(792): Show TGCCTGCAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATCACGAGGT CAGGAGATGGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGC TACTCTTGAGGCTGAAGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCT TGCAGTGAGCCGAGATAGTGCCACTGCGCTCCAGCCTGGGCAACAGAGTG AGACTCCGTCTCAAAAAAAAAAAAAAAAACAAAACAAAACCCAGAAAGGC CAGAAATAAACCCCATATCCTCCATGAACTTCACAGATGATGGAATATAC ATTCCAAAGTCAAGAAGAAAGAGTGAATTAGCAAACGAATGGTGTTGAGA CAACAGCATGGCAATTTAGAAAAAAATGAACACTTAAAACCAACACCTTA TACAGTATAAGAAACACATTTCACTTGAATTAAAGGAGTTATATATTTAA AAATCAAGTCAGGAAAAAAGCAAAACATATAATGGAGTATTTCTTTGAAA GGCTGATACTTTTCTACAGGCTGAGTAACCAGAAGAAAGCAACTAGAGAG GCTGACAGAGCTGACCGAAGAAACAAAACACCAGCCCGGCAGAATAAAAA AGGAAGCTCTGCAAATATAAACCCACCCAAGCTAGCAGAGGGTTAATGAC TAGCCCCAGGGAGAACCAATCAGCTTCAGAGGAGGAAAGTTGGGGGCCGT AACCACCAGCCATTAAAGAAACAAGTTTCAGGCCGGGCGTGGTGGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0072 a0001c0014t0002g0072	1	249	0.0040	-799	c.534 others(19): Show c.534+13903_534+14701del	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
AHRR_chr5_316714_443285	391309	GGGCCAGA others(792): Show GGGCCAGAGCGTGCACGGGCGCAGGGCGAGGCGGGCGCAGGGCGAGGCAG GGCCAGAGCGTGCATGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGG GCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGCGAGGCAGGG CCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGC CAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCC AGAGCGTGCACGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCA GAGCGTGCACGGACACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAG AGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGA GCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAG CGTGCACGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGC GTGCACGGACACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCG TGCACGGGCGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGT GCACGAACACACGGGTGCAGGGCGAGGCAGGCGCAGGGCGAGGCAGGGCC AGAGCGTGCACGGACGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCA GAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAG AGCGTGCACGAACACACGGGTGCAGGGCGAGGCAGGCGCAGGGCGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0007 a0004c0003t0007	a0004c0003t0007g0244 a0004c0003t0007g0244	1	260	0.0038	-799	c.351 others(19): Show c.351+14596_351+15394del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AMZ1_chr7_2683202_2724683	2707296	ACACACAC others(792): Show ACACACACACACAGAACAACCTCCTTGTCAATCTGTTCCTTTTAATGGTA GAACTCCTTGGAAAACACTTCTCCGGTGTGCCTCTGTGCCGCAACCCCTC TTCTCTACACTAACTCTGAGACCCTCTCCGGGTTTCCTGGGCCCGTGGTG GCTGCTCTGCCCCCTTCCCTCCCTGGGCTTCTGGTTTCCCGGCTTTGATG CCATCGTGCCCAGGTTCAGCCCCTGGGCCTCTCCTGTATCTGTCCACACT CATGCTCCGGGGAACCATGCTAACAAGTTACACAACTTGCTAGCTTGGAT GACCCACTGTGATCTCACAGTGCTGTGGGTCAGGAGCGCCCCCACTGCCC AGGCTAAAGTCAAGGGTTGGCTCCAGGAAACTCCAGGGAGAATCCATTTC CTGCCCTTTCCAGCTTCTAGAGGCACCCGTATCCTTGGCTAATGGTCCTT CCTCCGAGCCAGCCCTGCAGTGCCCTCAGGCCTCACGTTCTCACCCAGAC CCCCTGCTGCCTCTAACGAGGGCTTTTTTTTTTTTTTTTTTTTTTTGAGA TGGAGTCTGGCTCTGTTGCCCAGGCTAGAGGGCAGTGGCGTGATGTCAGC TCATTGCCACCTCTACCTCCTGGGTTCAAGCAATTCTCCCGTCTCAGACT CCTGAGTAGTTGGGATTACAGGCACGCACCACCAGGCCCGGCTCATTTTG TATTTTTAGTAGAGATGGGGTTTTGTCATGTTGGCCAGGCTGGTCTCGAA CTCCTGACCTCAGGTGATCTGCCCATCTTGGCCTCCCGAGTTGCTGGCAT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0060 a0001c0004t0060	a0001c0004t0060g0251 a0001c0004t0060g0251	1	436	0.0023	-799	c.473 others(16): Show c.473-1287_473-489del	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
EHMT1_chr9_137614005_137841127	137818778	ACTTAGGG others(792): Show ACTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGC CATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGA CCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGC CGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTTAGGGGC GCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGA GACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAG GCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGG GCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC GAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAG AGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAG GGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTA CCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAG AGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTG AGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTG TACCGAGACCGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACCGT AGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGAC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0001 a0003c0023t0001	a0003c0023t0001g0075 a0003c0023t0001g0075	1	141	0.0071	-799	c.354 others(18): Show c.3540+641_3540+1439del	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26			chr9	TogoVar
IDI1_chr10_1034419_1054119	1046800	TCTACACC others(792): Show TCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGC TGCTCCACTGTCTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACA CCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCC ACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCC CAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACA CCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCC ACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCC CAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACA CCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCC ACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCC CAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACA CCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCC ACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCC CAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACT GTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAG CTGCTCCACTGTCTGGTCCTTTGTCTACACCACACAGCCCAGCTGCTCCA	T T	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	-799	c.140 others(17): Show c.140+1265_140+2063del	IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	1/4			chr10	TogoVar
PALLD_chr4_168492052_168933441	168797160	ATTACTTG others(792): Show ATTACTTGGCTTGAGGGAGACACAGTTGGATGAGCAAAGAAAAAAAGAAA CAATCAAATGATTTTCTGATGCTTTCGAATGTTCATAGGCTTGCTTTGAA ATCCCTCTGTCTATATCACCCCATCCTGTTTTTGACTTCTAATCTCCTTT ACCAAATACTATGTAGCAATATTTTGTGAGTCATCCAAAAGTTGAGTATA TTTAGACCACCGTGACAATCAAACAGTATAAACAGAACTACTCATCTGTC TGTTCATCATCATCCCACGCAGGGAGTTAATTCCTAATAAAGGAGTTTAT CAGATCACCCTCAATTACATCACTTTGGGATAATTTCATACCCAAGGAAA TTTGAGGCATTTTTGCCTTGGAAAAGAGCAGGTGCCTTACGAAAAAGAAA CTAGATTTGTGAGAACTGGGCTTATGTTTCAAATTTATATTCTCAACTTT ACTCTGAAGAGATGGCTTGGAAGAAGTGACGGTAACACAGAATTGCCAGT TTGCTTGGCAAGGTCAAACTATTCCATATGTTACCTTGCAAGAAAAATAT GTTAATTTAAAAAATATCAGAGACCAAATGAGAAGTTGAACACACAGCTG ATTTAGCTCAGATTTTTGTTTGTTGTTATACCGATTGCCATATTAGCTCC CTCTTCTACCACCTCAACCCCACCCCCACCACCATACAGCTGCTCGCTTG CTCGTTACAAAGCATATTTCCCCCTGTATATTAATGTCATATTCAGCAAA TCAGGAAATTTTGCAACTTCCCTTCTGATCCTAATCTGGCTATTTTTCTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0007 a0002c0006t0007	a0002c0006t0007g0046 a0002c0006t0007g0046	1	154	0.0065	-799	c.196 others(21): Show c.1964+85238_1964+86036del	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21			chr4	TogoVar
PCGF3_chr4_700832_775089	746861	GCCCCGGG others(792): Show GCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGC AGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0191 a0001c0001t0004g0191	1	337	0.0030	-799	c.462 others(17): Show c.462+2177_462+2975del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
TRAPPC9_chr8_139722725_140462744	140196027	ACACCTGT others(792): Show ACACCTGTGACACTAAAACACATTGAACAATTCACATACAGACCACACCT GTGATACTAAAACACTCAATGATCCACACCATACAGATCACACCTGTGAC ACTGAAACACAACGATCCACCATACAGATCACACCTGTGACACTAAAACA CACTCAACGATCCACCATACAGATCACACCTGTGACACTAAAACACACTC AACGATCCACCATACAGATCACACCTGTGACACTAAAACACACTCAACGA TCCACCATACAGATCACACCTGTGACACTAAAACACACTCAACGATCCAC CATACAGATCACACCTGTGACACTAAAACACACTCAACGATCCACCATAC AGATCACACCTGTGACACTAAAACACACTCAACGATCCACCATACAGCTC ACACCTGTGACACTAAAACACACTCAACGATCCACCATACAGCTCACACC TGTGACACTAAAACACACTCAACGATCCACCATACAGATCACACCTGTGA CACTAAAACACACTCAACGATCCACCATACAGATCACACCTGTGACACTA AAACACACTCAACGATCCACCATACAGATCACACCTGTGACACTAAAACA CTCAACAATCCACTGTACAGATCACACCTGTAACACTAAAACACACTCAA CAATCCACTGTACAGATCACACGTGTGACACAAACACACAACGATCCACT ACACAGCTTGCACCTGTGACACTAAAACACACTCAATGATCCGCTATACA GCTCACACCTGTGACACTAAAACACACTCAACTATCCACTGTACAGATCG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0021 a0001c0008t0003g0021	1	96	0.0104	-799	c.255 others(21): Show c.2556+24633_2556+25431del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
ZNF701_chr19_52565287_52592174	52569713	CGCCCAGG others(792): Show CGCCCAGGCTGGCCTGGACCCCCAGGCTCAGTGATCCTCCCGCCTCTGGC CCTCAGGCTCCCGCCCACCTGGCCGCATTCCTGCTATGTTTAAGCAGTAG GTGGTGACTTCACTCCTCCCTGGCCTGAACACTCCGTCGCGCATCCCAGG CGGAGGCCCTAGGGAAGTCTCTGAAGCTGAGCACAGGGTGGACTCTCCCT CCTGAGTGAATGGAGAATAGAAAGGGAGAGGATTTCTGTTCTGTTCTGTG GGCCGTCAGCATGAAATTGTACGTTCCGCCCAGGCAGGGCTTTGCATTTT ACATTCTTGTTTGCATCCCCGTTCCAGACAATTCCAGGGCTTTCGAATCG TGCTTCAGCCTTCCTGACCGCTCTCGCCTCCAAAGCCCGAAAAATAGAGT CGCTGGGAGCGAGGCTGAGAGACGCACAGGTCCCGCCCCGGCCCCGCCCT CTGCCGGTTCTAAAGGGCAAGGTCTCTCCGCCTGGGGCCCCGCCTCTACC TCGATCAGGCCCCGCCCACCTTCTCGTTGGCTCCACCCAGGCCTGGCTTT AGTCCTGTGCGCACACATCCGCGCAGACCAGGAAGCGGATCCCGTGGAGT GAAGGTCGCACCGCGGCGGTGAGTTTTGCTCTGTGTTGTATTAAGTCTGC ACTCCCCATATCCCCGGCACTTCCGTACCTGGGACGTGGGGTCACCACAG ACCTGTAAATTCTCGCCCATCTTCCTTCAACCAGAGCAAATGCAGACGTT CCCCTGGGAATCCGGAAGTCGCTTCCTTTTGTGTTTAAAGTCGCCCTGAG	C C	splice_donor_variant others(4): Show splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0059 a0002c0003t0007g0059	1	454	0.0022	-799	c.-68 others(12): Show c.-686_-72+184del	ZNF701	ENSG00000167562.14	transcript	ENST00000391785.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADPRHL1_chr13_113394611_113458488	113435403	TGTAGAGT others(791): Show TGTAGAGTGAACACAGGTGTACCCCGGGACCCAGCACCCAGGTGTAGAGT GAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACACAG GTGTACCCCGGGACCCAGCACCCAGGTGTAGGGTGAACATAGGTGTACCC CGGGACCCAGCACCCAGGTGTAGAGTGAACACAGGTGTACCCCGGGACCC AGCACCCAGGTGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCA GGTGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGA GTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACAT AGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACACAGGTGTAC CCCGGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGGAC CCGGCACCCAGGTGTAGAGTGAACACAGGTGTACCCCGGGACCCAGCACC CAGGTGTAGGGTGAACATAGGTGTACCCCGGGACCTGGCACCCAGGTGCA GGGTGAATACAGGTGTACCCCGGGACCCAGCACCCACATGTAGAGTGAAC ATAGGTGTACCCCGGGACCCAGCACCCAGGCACAGAGTGAACATAGGTGT ACCCTGGGACCCAGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCGGG ACCCAGCATCCACACGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCA CCCAGGCGCAGGGTGAACATAGGTGTACCCCGGGACCCAGCATCCACAC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0092 a0002c0005t0092	a0002c0005t0092g0085 a0002c0005t0092g0085	1	260	0.0038	-798	c.380 others(17): Show c.380-2334_380-1537del	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7			chr13	TogoVar
ANKRD11_chr16_89262630_89495561	89429102	ACGCTCAG others(791): Show ACGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAG ACGTTCTAGTACACAGCAGGGATTCTCAACTCTCACGCTCAGACGTTCTA GTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAG CAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGTACT CTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTC TCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTC AGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGACGTTC TAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGTCGTTCTAGTACAC AGCAGGGACTCTCAACTCTCAGGCTCAGACGTTCTAGTACACAGCAGGGA CTCTCAACTCTCGCGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAAC TCTCAGGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGC TCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGTCGT TCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGTCGTTCTAGTAC ACAGCAGGGACTCTCAACTCTCACGCTCAGTCGTTCTAGTACACAGCAGG TACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCA ACTCTCACGCTCAGACGTTCTAGTACACAGCAGGTACTCTCAACTCTCG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01433.hp2 HG02129.hp2 others(2): Show HG01070.hp2 HG01433.hp2 HG02129.hp2 HG03688.hp2 HG03710.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0006c0044	a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 a0006c0044t0002	a0001c0001t0001g0158 a0002c0002t0002g0141 a0002c0002t0002g0262 others(2): Show a0001c0001t0001g0158 a0002c0002t0002g0141 a0002c0002t0002g0262 a0003c0003t0001g0160 a0006c0044t0002g0142	5	304	0.0164	-798	c.-14 others(21): Show c.-144-11532_-144-10735del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89429236	ACGTTCTA others(791): Show ACGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCTA GTACACAGCAGGTACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAG CAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACT CTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTC TCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTC AGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCAGGCTCAGACGTTC TAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGTCGTTCTAGTACAC AGCAGGGACTCTCAACTCTCAGGCTCAGTCGTTCTAGTACACAGCAGGGA CTCTCAACTCTCGCGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAAC TCTCACGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGC TCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGTCGT TCTAGTACACAGCAGGTACTCTCAACTCTCGCGCTCAGACGTTCTAGTAC ACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGG TACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCA ACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGATTCTCAACTCTCAC GCTCAGTCGTTCTAGTACACAGCAGGGATTCTCAACTCTCACGCTCAGT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	298	0.0034	-798	c.-14 others(21): Show c.-144-11666_-144-10869del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
B3GNTL1_chr17_82937149_83056770	82975306	GGACTCCA others(791): Show GGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCC GGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGA GTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGGCTGGAGGC CACTTATGGGGAACGAGGGCCCCGGGACAGAGCCGAACTCCATCCTCCCA GGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACT CCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGAC AGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAG GGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTA TGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACC AGAGGCCACTATGGGGAACGAGGGCCCCGGGACAGAGCCGGACTCCATCC TCCCAGGGGCCGGAGGCCACTTATGGGGAAACAGGGCCCCAGGACAGAGC CCGACTCCATCCTCCCAGGGGCCGGAGGCCACTTATGGGGAACGAGGGCC CCGGGACAGAGCCAGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGA GAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGGCTGGAG GCCACTTATGGGGAACGAGGGCCCCGGGACAGAGCCGGACTCCATCCTCC CAGGGGCTGGAGGCCACTTATGGGGAAACAGGGCCCCAGGACAGAGCCC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03209.hp2 NA18522.hp2 HG00639.hp2 HG03209.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0037 a0001c0001t0004 a0001c0001t0037	a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0037g0257 a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0037g0257	3	266	0.0113	-798	c.460 others(18): Show c.460-10358_460-9561del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BANP_chr16_87946434_88082316	88000135	CGTGCGCG others(791): Show CGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACGTCTCCATGCACGCA CTTGCACGGCTGTACTTACCAGGCCTTCCAGACACGTCTCCATGCACGCA CGTGCGCGGCTGTACTCACCTGTCCTTCCAGACACGTCTCCATGCACGCA CGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACCCAGACACGTCTCCA TGCACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACCCAGACA CGTCTCCATGCACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACA CCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGTACTTACCTGTCCT TCCAGACGCGTCTCCATACACGCACGTGCGCGGCTGTACTTACCTGTCCT TCCAGACGTGTCTCCATGCACGCACGTGCGCGGCTGTACTTACCTGTCCT TCCAGACACCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGGACTCA CCTGTCCTTCCAGACACGTCTCCATGCCCGCACGTGCGCGGCTGGACTCA CCTGTCCTTCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGTACTTA CCTGTCCTTCCAGACACGTCTCCATGCACGCACGTGCACGGCTGTACTTA CCTGTCCTTCCAGACACCCAGACACGTCTCCATGCACGCACATGCGCGGC TGGACTTACCTGTCCTTCCAGACGTGTCTCCATGCACGCACGTGCGCGGC TGTACTTGCCTGTCCTTCCAGACACCCAGACACGTCTCCATGCACGCAT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02809.hp2 HG01167.hp2 HG02809.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0007 a0001c0010t0007	a0001c0010t0007g0122 a0001c0010t0007g0123 a0001c0010t0007g0122 a0001c0010t0007g0123	2	350	0.0057	-798	c.363 others(17): Show c.363-4115_363-3318del	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	88000186	TTGCACGG others(791): Show TTGCACGGCTGTACTTACCAGGCCTTCCAGACACGTCTCCATGCACGCAC GTGCGCGGCTGTACTCACCTGTCCTTCCAGACACGTCTCCATGCACGCAC GTGCGCGGCTGTACTTACCTGTCCTTCCAGACACCCAGACACGTCTCCAT GCACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACCCAGACAC GTCTCCATGCACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACAC CCAGACACGTCTCCATGCACGCACGTGCGCGGCTGTACTTACCTGTCCTT CCAGACGCGTCTCCATACACGCACGTGCGCGGCTGTACTTACCTGTCCTT CCAGACGTGTCTCCATGCACGCACGTGCGCGGCTGTACTTACCTGTCCTT CCAGACACCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGGACTCAC CTGTCCTTCCAGACACGTCTCCATGCCCGCACGTGCGCGGCTGGACTCAC CTGTCCTTCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGTACTTAC CTGTCCTTCCAGACACGTCTCCATGCACGCACGTGCACGGCTGTACTTAC CTGTCCTTCCAGACACCCAGACACGTCTCCATGCACGCACATGCGCGGCT GGACTTACCTGTCCTTCCAGACGTGTCTCCATGCACGCACGTGCGCGGCT GTACTTGCCTGTCCTTCCAGACACCCAGACACGTCTCCATGCACGCATGT GCGCGGCTGTACTTACCTGTCCTTCCAGACACGTCTCCATGCCCGCACG	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19043.hp1 HG03486.hp2 NA19043.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0017 a0002c0019t0018 a0002c0019t0017 a0002c0019t0018	a0002c0019t0017g0088 a0002c0019t0018g0087 a0002c0019t0017g0088 a0002c0019t0018g0087	2	350	0.0057	-798	c.363 others(17): Show c.363-4105_363-3308del	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	88000190	ACGGCTGT others(791): Show ACGGCTGTACTTACCAGGCCTTCCAGACACGTCTCCATGCACGCACGTGC GCGGCTGTACTCACCTGTCCTTCCAGACACGTCTCCATGCACGCACGTGC GCGGCTGTACTTACCTGTCCTTCCAGACACCCAGACACGTCTCCATGCAC GCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACCCAGACACGTCT CCATGCACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACCCAG ACACGTCTCCATGCACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAG ACGCGTCTCCATACACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAG ACGTGTCTCCATGCACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAG ACACCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGGACTCACCTGT CCTTCCAGACACGTCTCCATGCCCGCACGTGCGCGGCTGGACTCACCTGT CCTTCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGTACTTACCTGT CCTTCCAGACACGTCTCCATGCACGCACGTGCACGGCTGTACTTACCTGT CCTTCCAGACACCCAGACACGTCTCCATGCACGCACATGCGCGGCTGGAC TTACCTGTCCTTCCAGACGTGTCTCCATGCACGCACGTGCGCGGCTGTAC TTGCCTGTCCTTCCAGACACCCAGACACGTCTCCATGCACGCATGTGCGC GGCTGTACTTACCTGTCCTTCCAGACACGTCTCCATGCCCGCACGTGCG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01069.hp2 others(21): Show HG00639.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01993.hp1 HG02970.hp1 HG02970.hp2 HG03516.hp2 HG03710.hp2 HG04204.hp2 HG06807.hp2 NA18939.hp2 NA18975.hp2 NA18984.hp1 NA18989.hp2 NA19000.hp2 NA19060.hp1 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0020 a0001c0026 others(1): Show a0001c0004 a0001c0020 a0001c0026 a0002c0028	a0001c0004t0004 a0001c0020t0007 a0001c0026t0004 others(1): Show a0001c0004t0004 a0001c0020t0007 a0001c0026t0004 a0002c0028t0015	a0001c0004t0004g0064 a0001c0004t0004g0065 a0001c0004t0004g0066 others(21): Show a0001c0004t0004g0064 a0001c0004t0004g0065 a0001c0004t0004g0066 a0001c0004t0004g0115 a0001c0004t0004g0124 a0001c0004t0004g0125 a0001c0004t0004g0128 a0001c0004t0004g0129 a0001c0004t0004g0131 a0001c0004t0004g0135 a0001c0004t0004g0138 a0001c0004t0004g0141 a0001c0004t0004g0144 a0001c0004t0004g0147 a0001c0004t0004g0149 a0001c0004t0004g0151 a0001c0004t0004g0156 a0001c0004t0004g0166 a0001c0004t0004g0341 a0001c0004t0004g0342 a0001c0020t0007g0140 a0001c0020t0007g0146 a0001c0026t0004g0132 a0002c0028t0015g0089	24	350	0.0686	-798	c.363 others(17): Show c.363-4044_363-3247del	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	88000311	TCCAGACA others(791): Show TCCAGACACCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGTACTTA CCTGTCCTTCCAGACACCCAGACACGTCTCCATGCACGCACGTGCGCGGC TGTACTTACCTGTCCTTCCAGACACCCAGACACGTCTCCATGCACGCACG TGCGCGGCTGTACTTACCTGTCCTTCCAGACGCGTCTCCATACACGCACG TGCGCGGCTGTACTTACCTGTCCTTCCAGACGTGTCTCCATGCACGCACG TGCGCGGCTGTACTTACCTGTCCTTCCAGACACCCAGACACGTCTCCATG CACGCACGTGCGCGGCTGGACTCACCTGTCCTTCCAGACACGTCTCCATG CCCGCACGTGCGCGGCTGGACTCACCTGTCCTTCCAGACACGTCTCCATG CACGCACGTGCGCGGCTGTACTTACCTGTCCTTCCAGACACGTCTCCATG CACGCACGTGCACGGCTGTACTTACCTGTCCTTCCAGACACCCAGACACG TCTCCATGCACGCACATGCGCGGCTGGACTTACCTGTCCTTCCAGACGTG TCTCCATGCACGCACGTGCGCGGCTGTACTTGCCTGTCCTTCCAGACACC CAGACACGTCTCCATGCACGCATGTGCGCGGCTGTACTTACCTGTCCTTC CAGACACGTCTCCATGCCCGCACGTGCGCGGCTGTACTTACCAGGCCTTC CAGACACGTCTCCATGCACGCACGTGCGCGGCTGTACTTACCTGTCCTTC CAGACACGTCTCCATGCACGCACTTGCACGGCTGTACTTACCAGGCCTT	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00741.hp2 HG01109.hp2 others(9): Show HG00438.hp2 HG00741.hp2 HG01109.hp2 HG01433.hp1 HG01884.hp2 HG01978.hp2 HG02300.hp1 HG02698.hp1 HG03195.hp2 NA18949.hp1 NA19002.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0018 a0001c0004 a0002c0018	a0001c0004t0004 a0001c0004t0012 a0002c0018t0016 a0001c0004t0004 a0001c0004t0012 a0002c0018t0016	a0001c0004t0004g0130 a0001c0004t0004g0136 a0001c0004t0004g0137 others(9): Show a0001c0004t0004g0130 a0001c0004t0004g0136 a0001c0004t0004g0137 a0001c0004t0004g0142 a0001c0004t0004g0143 a0001c0004t0004g0152 a0001c0004t0004g0153 a0001c0004t0004g0154 a0001c0004t0004g0167 a0001c0004t0012g0134 a0001c0004t0012g0139 a0002c0018t0016g0133	12	343	0.0350	-798	c.363 others(17): Show c.363-3975_363-3178del	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1C_chr12_2047987_2702950	2105565	ACCACTGG others(791): Show ACCACTGGGCGCCCACCCCGGGGAGGGTTTCCACCTCAGCTGGGCGTCCT GAAGCCACTGGGTGCCCACCCCGGGGAGGGTTTCCACCTCAGCTGGGCAT CCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCACCTCAGCTGGG CATCGTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCACCTCAGCT GGGCGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCACCTCA GCTGGGCATCCTGAAGCCACTGGGCGCCCACCCTGGGGAGGGTTTCCACC TCAGCTGGGCATCGTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCC ACCTCAGCTGGGCGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTT TCCACCTCAGCTGGGGCGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAG GGTTTCCACCTCAGCTGGGGCGTCCTGAAGCCACTGGGCGCCCACCCTGG AGAAGGTTTCCACCTCAGCTGGGCGTCCTGAAGCCACTGGGCGCCCACCC TGGAGAGGGTTTCCACCTGAGCTGGGCGTCCTGAAGCCACTGGGCGCCCA CCCTGGAGAGAGTTTCCACCTCAGCTGGGCGTCCTGAAGCCACTGGGTGC CCACCCCGGAGAGGGTTTCCACCTGAGCTGGGCGTCCTGAAGCCACTGGG CGCCCACCCCGGGGAGGATTTCTACCTCATCTGGGGCGTCCTGAAGCCAC TGGGCACCCACCCCGGGGAGGGTTTCCACCTCAGCTGGGCATCGTGAAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03098.hp1 HG03225.hp1 HG02258.hp1 HG03098.hp1 HG03225.hp1	a0001 a0003 a0001 a0003	a0001c0015 a0001c0017 a0003c0016 a0001c0015 a0001c0017 a0003c0016	a0001c0015t0034 a0001c0017t0006 a0003c0016t0011 a0001c0015t0034 a0001c0017t0006 a0003c0016t0011	a0001c0015t0034g0056 a0001c0017t0006g0008 a0003c0016t0011g0082 a0001c0015t0034g0056 a0001c0017t0006g0008 a0003c0016t0011g0082	3	104	0.0288	-798	c.50- others(15): Show c.50-9623_50-8826del	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHMP1A_chr16_89639435_89662708	89647539	AGTGGAGA others(791): Show AGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCAGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCG CCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCA GCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGC CGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACC CAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGG GGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTG GAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAG GCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGA CGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGA CCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGC GGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02257.hp2 HG02886.hp1 HG00639.hp2 HG02257.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0052 a0001c0001t0004g0054 a0001c0001t0004g0055	3	357	0.0084	-798	c.253 others(16): Show c.253-1006_253-209del	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
DHRSX_chrX_2214506_2505976	2279728	GAGAGAGA others(791): Show GAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAA CGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAG ATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGA GAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGG GAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGG AGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGA GAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGG GAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGG CAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAG AAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGA GGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGA TGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAA GGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAA CAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGG AAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAG AGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGA	G G	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	48	0.0208	-798	c.388 others(19): Show c.388+10976_388+11773del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DIP2C_chr10_269201_694668	455384	CGTGAGGA others(791): Show CGTGAGGAGTAAATGAGATGAAAACACTCTGCAGTGAGTCCCTGCCTGAG GGGAGACCGTGAGGAGTAAATGAGATGAAAACACTCTGCAGTGAGTCCCT GCCTGAGGGGAGACCGTGAGGAGCAAATGAGATGAAAACACTCTGCAGTG AGTCCCTGCCTGAGGGGAGGCCGTGAGGAGCAAATGAGATGAAAACACTC TGCAGTGAGTCCCTGCCTGAGGGGAGGCCGTGAGGAGCAAATGAGATGAA AACACTCTGCAGTGAGTCCCTGCCTGAGGGGAGACCGTGAGGAATAAATG AGATGAAAACACTCTGCAGTGAGTCCCTGCCTGAGGGGAGACCGTGAGGA ATAAATGAGATGAAAACACTCTGCAGTGAGTCCCTGCCTGAGGGGAGGCC GTGAGGAGTAAATGAGATGAAAACACTCTGCAGTGAGTCCCTGCCTGAGG GGAGGCCGTGAGGAGTAAATGAGATGAAAACACTCTGCAGTGAGTCCCTG CCTGAGGGGAGGCCGTGAGGAGTAAATGAGATGAAAACACTCTGCAGTGA GTCCCTGCCTGAGGGGAGGCCGTGAGGAGCAAATGAGATGAAAACACTCT GCAGTGAGTCCCTGCCTGAGGGGAGACTGTGAGGAATAAATGAGATGAAA ACACTCTGCAGTGAGTCCCTGCCTGAGGGGAGACTGTGAGGAATAAATGA GATGAAAACACTCTGCAGTGAGTCCCTGCCTGAGGGGAGGCCGTGAGGAG TAAATGAGATGAAAACACTCTGCAGTGAGTCCCTGCCTGAGGGGAGACT	C C	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0016 a0001c0005t0002g0016	1	88	0.0114	-798	c.269 others(19): Show c.269-15186_269-14389del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
FGGY_chr1_59292094_59767730	59380136	TATGGCTG others(791): Show TATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCC AGTCTATCATTCATGGACATTTGGGTTGATTCCAAGTCTTTGCTATTGTG AATAGTGCCACAATAAACATACATGTGCATGTGTCTTTATAGCAGCATGA TTTATAATCCTTTGGGTATATACCCAGTAATGGAATGGCTGGGTCAAATG GTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAAT GGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCCATTTC TCCACATCCTCTCCGGCACCTGTTGTTTCCTGACTTTTTAAAGATCGCCA TCCTAACTGGTGTGAGATGATATCTCATTGTGGTTTTGATTTGCATTTCT CTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTCTTCTGGCTGCATA AATGTCTTCTTTTGAGAAGTGTCTGTTCATATCCTTTGCCCCCTTTTTGA TGGGGTTGTGTTTTTCTTGTAAATTTGTTTGAGTTCTTTGTAGATTCTGG ATATTAGTCCTTTGTCAGATGAGTAGATTGCAAAAATTTTCTCCCATTCT GTAAGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTCCAGAAGCT CTTTAGTTTAATGAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTG CTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCTATGTCCTGAATG GTATTGCCTGGCTTTCTTCTAGGGTTTTTATGGTTTTAGTTCTAACATG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02630.hp2 HG03453.hp1 others(2): Show HG02145.hp1 HG02630.hp2 HG03453.hp1 NA18522.hp2 NA20300.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0010 a0001c0001 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0011c0010t0001	a0001c0001t0001g0114 a0001c0001t0002g0031 a0001c0001t0002g0032 others(2): Show a0001c0001t0001g0114 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0003g0018 a0011c0010t0001g0131	5	164	0.0305	-798	c.554 others(17): Show c.554+1300_554+2097del	FGGY	ENSG00000172456.18	transcript	ENST00000303721.12	protein_coding	5/15			chr1	TogoVar
LRRTM4_chr2_76742685_77527376	77136713	AGCTAAAA others(791): Show AGCTAAAAACCTTGAAAAAAGATTAGATGAATGGCTAACTAGAATAACCA GTGTAGAGAAGTCCTTAAATGACCTGAGGGAGCTGAAAACAATGGCACAC GAACTATGTGATGAATGCACAAGCTTCAGTAGCCGATTCGATCAACTGGA AGAAAGGGTATGAGTGATTGAAGATCAAATGAATGAAATGAAGTGAGAAG AGAAGTTTAGAGAAAAAAGAGTCAAAAGAAATGAACAAAGCCTCCAAGAA ATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCTGA AAGTGACAGGGAGAATGGAACCAAGGTGGAAAACACTCTGCAAGATATTA TCCAGGAGAACTTCCCCAACCTACCAAGGCAGGTCAACATTCAAATTCAG GAAATACATAGAGTACCACAAAGATACTCCTCAAGAAGAGCAACTCCAAG ACACACAATTGTCAATTCACCAAAGATGAAATGAAGGAAAAAATGTTAAG GGCAGCCAGAAAGAAAGCTTGGGTTATCCACAAACAGAAGCCCATCAGAC TCACAGCAGATCTCTTGGCAGAAACTCTACAAGCCAGAAAGAGTGGGGGC CAATATTCAGCATTCTTAAAGAAAACAATTTTCAACCCAGAATTTCATAT CCAGCCAAACTAAGCTTCGTAAGTGAAGGAGAAATAAAATCCTTTACAGA AGAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTACAGGAGC ACCTGAAGGAAGCGCTAAACATGGAAAGGAACAATCAGTACCAGCCACT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03139.hp1 HG03579.hp2 HG02055.hp1 HG03139.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0035 a0001c0001t0002g0121 a0001c0001t0003g0093 a0001c0001t0002g0035 a0001c0001t0002g0121 a0001c0001t0003g0093	3	128	0.0234	-798	c.155 others(23): Show c.1551+380807_1551+381604del	LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3			chr2	TogoVar
NFATC1_chr18_79390930_79534323	79504886	CGTGGGAG others(791): Show CGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAG ACTGCTGTGTGGGAGGAGGTGGTGGATGAGACCCTTGGGTGATGGAAGAG GCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAG GGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGATGCTGGAGGCCCTT GGGTGATGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGA GGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGG TGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAG GAGGTGGTGGATGAGACCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGC GTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGA CTGCTGCGTGGGAGGAGGTGATGCTGGAGGCCCTTGGGTGATGGAAGAGG CAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGA GAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGATGCTGGAGGCCCTTG GGTGATGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGAG GCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGT GGATGAGACCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGCGTGGGAGG AGGTGGTGGACGAGACCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0290 a0001c0010t0004g0290	1	320	0.0031	-798	c.278 others(21): Show c.2782+18041_2782+18838del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
PCGF3_chr4_700832_775089	745552	GCCCGGGG others(791): Show GCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTT AGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02735.hp1 HG01109.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0062 a0001c0001t0031 a0001c0001t0062	a0001c0001t0031g0110 a0001c0001t0062g0074 a0001c0001t0031g0110 a0001c0001t0062g0074	2	354	0.0056	-798	c.462 others(16): Show c.462+893_462+1690del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PPP1R14C_chr6_150138044_150255392	150246209	CTTTACTT others(791): Show CTTTACTTTTGAAAATGTGTTATTAAAATAGTGCAGAAAAATTACCAGTT ATTAACAAAATAAATTATAGGGTTTGTGATTTTTGACCTTTGCTTTAAAA AAAAAACAAGCTTACATTCAAATACTGAAACTTTTTGTAGTAGTCATATG CATAACAGATTCCAAAAACAACAGAATTGAAACTGTATGTGCAGAATACT ATGTATTGGTTAAACCACATAACACAGGAGGCAATAGGAAATGCATTTAC ATTTGCAAAATGAAAATTGAATATAAATAGGAAAATGTGGCATGATTTTA TCCTAGAAAATTATTTAAATCAGAATAGACAGTGTTCAGAAAATTAAAAT AAGGCCTCCATTTTACTTCACTTGTATTTCATTCTGTACAAGTTCAGAAA TGGTGGTGATTAAAATATTTAAGTCACTTTACATTCTTCTGGGATAGCTC TCCAAAGGGAATAATCCAAGCTACAGACAAAAATTTATGTACAAAGACAT TAGTTATGGCATTTTTTATAATTTTGAAAAGTCAGGAGCCATCCAAATAT CCAGTGGTGGGAGGAATTAAGCAGATTGTATAACATCCTTACAAAAAGAT TATATAACCACTAACATTAATTTTTAGGAAGATTGTTTAATGTGGGAAAA AGCATCTGACATAATGCTAGGTGAAGAAAAAGGATATATTTATATGGTAT GATCTTAATTAGGTGAAAACAATATATTTTCTTCAATATCCATAGAAGAA AATATATTAATAGCAGTTAATTCTGAGGACTGCATTGTTGCTGGTTGTA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0300 a0002c0002t0001g0300	1	310	0.0032	-798	c.424 others(17): Show c.424-2533_424-1736del	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCUBE1_chr22_43192280_43348372	43280731	TTCCTCCT others(791): Show TTCCTCCTCGGCCACCCTCCTGTCACCTCCCTCATTGGCCACCCTCCTGT CATCTCCTCCTCAGCTACCCTGTCACCTCCCTCAGCCATCCTCCTGTCAC CTCCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCAC CTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTACCCTGTCACCTC CCTCAGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCACCT CCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCT CCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTG GCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCC ACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATC CTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACC CTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTACCCTG TCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCT GTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTC ATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACC TCCCTTGGCCACCCTCCTGTCATCTCCCTCAGCCACCCTCCTGTCACCTC CCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGCCACCCTCCTGTCA	T T	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0061 a0002c0002t0061	a0002c0002t0061g0041 a0002c0002t0061g0041	1	278	0.0036	-798	c.484 others(18): Show c.484+9517_484+10314del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SUGP1_chr19_19271033_19325509	19299573	GGGGTTTC others(791): Show GGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCACCCCGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCG CACCCGGCCTACTGACTTTTCATTACAGCTGATGCTCTATTGACATGATT TCCAGGATGTATCTCAGAAATGGGAGAATGACTAGTCCAAGGGATGGGCG TTTCCAGCTTTTCATTTTTTTTTTGTTTTGTTTTTCAAGATGGAGTTTCA CTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACCGCAA CCTCCGCCTGCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGAGATTGCAGGCATGCGCTAATTTTGTATTTTTAGTAGAGACGGGGTT TCTCCACGTTGGTCAGGCTGTTCTTGAACTCTCGACCTCAGGTGATCCAC CTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAAGCC CAGCCTCATTTTTTATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGC TGAAGTGCAATGGCATCATCTCGGCTCACTGCAACCTTTGCCTCCTGGGT TCAAGTGATTTTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTATAGGCAC ATGACACCATGCCCAGTTAATTTCTATATTTTTAGTAGAGATGGGGTTTC GCCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCTCAGGTGATCCACTT GCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01243.hp1 HG00738.hp2 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0060 a0001c0001t0002g0054 a0001c0001t0002g0060	2	330	0.0061	-798	c.887 others(17): Show c.887+1894_888-2230del	SUGP1	ENSG00000105705.16	transcript	ENST00000247001.10	protein_coding	7/13			chr19	TogoVar
VHL_chr3_10136778_10158667	10148384	GGCTCACT others(791): Show GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTAGATTTTCTAAGTACACAT TGTTTTGGTTATGTGTTTTGTGACTACCACCCCAAAACTAATAACCACCT TTTTTTTTTTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGC AGTGGCGTGTGATCTTGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGC GATTCTCCTGCTTCAGCAGCTGGGACTACAGGTGTGCACCACCAAGCCTG GCTAATTTTTTGCATTTTAGTGGAGACGGGGGTTTCACCATGTTGACCAG GCTGATCTTGAACTCTTGAGCTCAGGCAGTCTGCCTGCCTCAGCCTCCTA AAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCCACCATTTTAT TTGTTCATAATTCTGTAGTCCAGGCTGGGCTCAGCTAGGCAGTTACTCTG CTGGTGGTAGTCGTTGGTGTGGCTGCCTTTTGCTGGCAGCTGGGGGCTGG GCCTGTCCCTCTTTTTTTTTTTTCTCTTTTCTTTTTTCTTTTTTTTCAAG ATAGGGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTTA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0064 a0001c0001t0050g0064	1	406	0.0025	-798	c.464 others(16): Show c.464-1391_464-594del	VHL	ENSG00000134086.9	transcript	ENST00000256474.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18381605	TTGAACCT others(790): Show TTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCAGGCCACTGCTC TCCAGCCTGGGCAACATGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAGGTTCATTTTAATGTAACTTAGTTGACTGTAGAATTTGGAATGTGAAG GGATAGGATTGTATTAATGAGTGTTGTGTTCGTATATTACATCATGCTGT ACCCACAGAAACAGGTCCTAAGAAATGCTATTCTCTAACAATACACATTC ATGATGTGGCTCACCCAGAGCACCAAAACCCTGCTGGCCATAGCAGGTAG GGTCCACTTATCCCCGGCATCGCCTGGGACATCATATGGACATGTTCTTT TACTTGGTTCTTCATGACAAGCACAAAAGCATAACTTGAGAAGGATTGAA CTTACATTAGAATGAGACTTTTATGTATTTTTATAATATCGTCATCTTAA GCAAAATTAAATGTGTTATAAATGATATATGGTGGACCTCTGATGTTCAT GTGTGTTTTTCACCTCACCGAAGAATGCTAAAAATTAATCTTAAATATAG CAAAATTACAGCAACAATAATAATAAAATATACTTGCTCAGAATGGATCT TGTGTCCTCCAGCATTGTCTAGAATTTTCCAGATTTTTCAGGAGGGCTGT CTCGTCTCATAACTCTGTGAATGTATATCACTCCAGAACTGCCTTTTTTC TCTGCTTAGACAGTTGTATCTTTCTTTGTATTGAGTATTCTTCGGTGAGT TAGCTCAGTGCCTCTTTTTTTAAAATTTTTTATTTTCATTTTAAGTTC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp2 HG02896.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0003 a0001c0002 a0001c0004 a0002c0003	a0001c0002t0042 a0001c0004t0037 a0002c0003t0051 a0001c0002t0042 a0001c0004t0037 a0002c0003t0051	a0001c0002t0042g0102 a0001c0004t0037g0139 a0002c0003t0051g0024 a0001c0002t0042g0102 a0001c0004t0037g0139 a0002c0003t0051g0024	3	200	0.0150	-797	c.214 others(19): Show c.214-20318_214-19522del	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13			chr10	TogoVar
CACNB2_chr10_18335709_18548557	18381605	TTGAACCT others(790): Show TTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCAGGCCACTGCTC TCCAGCCTGGGCAACATGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAGGTTCATTTTAATGTAACTTAGTTGACTGTAGAATTTGGAATGTGAAG GGATAGGATTGTATTAATGAGTGTTGTGTTCGTATATTACATCATGCTGT ACCCACAGAAACAGGTCCTAAGAAATGCTATTCTCTAACAATACACATTC ATGATGTGGCTCACCCAGAGCACCAAAACCCTGCTGGCCATAGCAGGTAG GGTCCACTTATCCCCGGCATCGCCTGGGACATCATATGGACATGTTCTTT TACTTGGTTCTTCATGACAAGCACAAAAGCATAACTTGAGAAGGATTGAA CTTACATTAGAATGAGACTTTTATGTATTTTTATAATATCGTCATCTTAA GCAAAATTAAATGTGTTATAAATGATATATGGTGGACCTCTGATGTTCAT GTGTGTTTTTCACCTCACCGAAGAATGCTAAAAATTAATCTTAAATATAG CAAAATTACAGCAACAATAATAATAAAATATACTTGCTCAGAATGGATCT TGTGTCCTCCAGCATTGTCTAGAATTTTCCAGATTTTTCAGGAGGGCTGT CTCGTCTCATAACTCTGTGAATGTATATCACTCCAGAACTGCCTTTTTTC TCTGCTTAGACAGTTGTATCTTTCTTTGTATTGAGTATTCTTCGGTGAGT TAGCTCAGTGCCTCTTTTTTTAAAATTTTTTATTTTCATTTTAAGTTC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp1 HG02896.hp1 HG02723.hp2 HG02886.hp1 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0003 a0001c0002 a0001c0004 a0002c0003	a0001c0002t0043 a0001c0004t0027 a0002c0003t0066 a0001c0002t0043 a0001c0004t0027 a0002c0003t0066	a0001c0002t0043g0186 a0001c0004t0027g0187 a0002c0003t0066g0185 a0001c0002t0043g0186 a0001c0004t0027g0187 a0002c0003t0066g0185	3	300	0.0100	-797	c.52- others(17): Show c.52-20318_52-19522del	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	1/12			chr10	TogoVar
LIMS1_chr2_108529470_108692246	108691449	TTTTTTTT others(790): Show TTTTTTTTTTGAGGTTTCATTAGGGTTTTCTGTATATAAGATCATGTCAT CTAGAATAGAGATAGTTTTATTTATTCTATTCCTATTTCAATACTTTTTG TTTGCATTTCTTGCCTAATTGCCCTGGCTAGAACATCCAGTACAGTGTTG AATAAAAGTGAAGAAAGAAGGCATCCTTGTAAGTCACTATTTTTTTTTTT TTTTTTTTTTTGACACGTAGTCTCGCACTTTGGCCCAGGCTGGAGTGCAA TGGCACGATCTTGGCTCACGGCAACTTCCGCCTCCCAGGTTCAAGTAATT CTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCAT GCCTGGCTTACTTTTTGTATTTTTATTAGAGATGGGGTTTCACTATTTTG GTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCCCGCCCACCTTGGCC TCCCAAAGTTCTGGGATTACAAAGCACTTTGTAAGCCACTGTGCCCAGCC GTAAGTCAGTTTTTATACCCCTTCTTTCATCCCTGATTTTAGTAATTAGA GTCTTTCTTTTTTCTTGGTCAATCTCAAAAAACAAAAGCTTTATGAATTT AAAAACGTTTTTCAAGCCGGGCACGGTGGCTCACTCCTGTAATCCCAGCA CTTTGAGAGGCTGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACTAT CCTGGCTAACACGATGAAACACCATCTGTACTAAAAAAATACAAAAAAAA AAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0073 a0001c0004t0013g0074 a0001c0004t0013g0073 a0001c0004t0013g0074	2	244	0.0082	-797	c.74 others(11): Show c.7451_*8247del	LIMS1	ENSG00000169756.17	transcript	ENST00000544547.6	protein_coding		4204		chr2	TogoVar
MSI2_chr17_57251523_57689689	57413340	GGGATGTA others(790): Show GGGATGTACCTCGAGTTCCATCCGGCTACCCCGCTGCTTCCAGTTTGTGG AACTGACTTGCCGGTTGCCCTGGCTTTGATGAAAGAGTTGAACCGATGTA GGCCCAAAGAGAGTTCTTCTGGGTGGATCCTTCTGATGAACACTCTTTAC ATTTCTTTCTCGAATAATTAAACTTTTTTTGGTAACGGATACTGCCTGGA AATTGTCCCAGTATCATTTGGCTGATGTTTGTTAAAATATCTTTATATAT ATTGATCCACTAATCTGTTTATTGCATTTATTTTGCCTCCTGGGAGAGCT TTTCAGATCCTCATTTAAGTTTTTCTTTCCTTTTCCTTTACATATGATTC TAATAAGCTTGGTTTTCTGGCTTCTTTTAAATTTATAGCAAATATTAAGG GGTGGAAAGATGTTAATAAACTCAGTGTAAAGCGAGAGGGAGAAAACCTA TAAAAACAAAGAGGCTTCGATCTTGAAAAGCTCCGCAATGTAGGACTGTT TAGTGCAGGGAAACAGTCATCCTTCCTCATTAGGCCCACAAGGCATTGCA TCTACAGCCTCACGCATCATTCATTTGTTCATTGATTCATTCAGCAGACC TTGATTACCTTGAATGCCAGGTACCGAGCTAGGAGCCAGGAGCACCTTGG TGAGTGGAACAGACAAGATCCTTGCTTACTTGGAGCTTAACAAGCATGGG GTGTGGGTGGCGGAGGACCAGCCAAAAGCAAGCAAGGAAATAATAAAAAT AATTACAGATTGTGTCATCAAGGAAAGAAACCAGGAGCTGAGAGAATC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG03471.hp1 HG02451.hp1 HG02486.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0022 a0001c0001t0072 a0001c0001t0019 a0001c0001t0022 a0001c0001t0072	a0001c0001t0019g0070 a0001c0001t0022g0073 a0001c0001t0072g0145 a0001c0001t0019g0070 a0001c0001t0022g0073 a0001c0001t0072g0145	3	166	0.0181	-797	c.405 others(19): Show c.405+11870_405+12666del	MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	6/13			chr17	TogoVar
PCGF3_chr4_700832_775089	744682	CGAGCAGG others(790): Show CGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGT TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT	C C	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0238 a0002c0002t0001g0238	1	310	0.0032	-797	c.462 others(14): Show c.462+14_462+810del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744702	GGGGGTCG others(790): Show GGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCT GCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	341	0.0029	-797	c.462 others(14): Show c.462+36_462+832del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744724	TTCGCCGT others(790): Show TTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTG TTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCT GCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02895.hp1 HG03831.hp2 others(2): Show HG02027.hp2 HG02895.hp1 HG03831.hp2 NA18951.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0047 a0001c0001t0002 a0001c0001t0047	a0001c0001t0002g0154 a0001c0001t0002g0161 a0001c0001t0002g0164 others(2): Show a0001c0001t0002g0154 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0171 a0001c0001t0047g0243	5	146	0.0342	-797	c.462 others(14): Show c.462+93_462+889del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	744784	GCCGTGGA others(790): Show GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0121 a0001c0001t0004g0121	1	323	0.0031	-797	c.462 others(15): Show c.462+150_462+946del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745012	TCCGTGGA others(790): Show TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGT TAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCT GCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAG TGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCA GTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02683.hp2 HG00735.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0068 a0001c0001t0003g0045 a0001c0001t0003g0068	2	220	0.0091	-797	c.462 others(16): Show c.462+356_462+1152del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746204	CTCTCCGT others(790): Show CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCC GGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCT GCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA20805.hp2 HG00099.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0055 a0002c0002t0003g0057 a0002c0002t0003g0055 a0002c0002t0003g0057	2	358	0.0056	-797	c.462 others(17): Show c.462+1519_462+2315del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746888	TTCGCCGT others(790): Show TTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGT GTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGC TGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCT GCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGG GGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0262 a0002c0002t0027g0262	1	270	0.0037	-797	c.462 others(17): Show c.462+2235_462+3031del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SAP30BP_chr17_75662338_75713059	75709415	CGCGCCAC others(790): Show CGCGCCACTGCACTCCAGCCTGGGCGATAGAGTAAGACTCCATCTCAAAA AAAAAAAAAAAAGCCGGGCGTGGTGGCAGGTGCCTGTAATCCTAGCTACT TGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGAAGGTTGCA GTGAGCCTAGATTGCGCCATTGCACTCCAGCCTGAGCGACAAGAGCAAAA CTCCCTCTCAGGGGCGGAGGGGGTTGGAAGGCTATTAAGCCACACAAAAA AGAACAAGGGGCCGGGCGCAGTGATTCACGTCTGTAATCCCAGCACTTTG GGAGGCCAAGGGACTGGATCCCATGAGGCCAGGAGTTCGAGACCAGCCTG ACCAACATAGTGAACCCTCATCTCTACTAAAAAAAAAAAAAAAATAGCTG GTCGTGGTGGCGCATGCCTGTAGTCCCAGCTAGTTGGGAGACTGAGGCAG GAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTG CCAATGCTCTTCAGCCTGGGCAACAAGAGCAAAAACTCCGTCTCAAAAAA AAAAAAAAAGGGAGCCGGGCGCGGTGGCTCATGCCTTTTAATACCAGGAC TTTGGGAGGCCAAGGCGGGCAGATCACAAGGACAGGAATTCAAGACCAGC CTGGCCAACATGGTGAAACCCCATGTCTACTAAAAATACAAAAACTAGCC TGGTGTGATGGCAGGTGCTTATAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATTGCTTGAAGCCGGGCAGCAGAGATTGCAGTGAGCCGAGATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	368	0.0027	-797	c.28 others(11): Show c.2895_*3691del	SAP30BP	ENSG00000161526.15	transcript	ENST00000584667.6	protein_coding		1357		chr17	TogoVar
SARDH_chr9_133658560_133743352	133668427	CACCCTCC others(790): Show CACCCTCCCTCTCCCTTACCCTCCCTCTCCCTCGCCCTCCCTCTCCCCTC GCCCTCCCTCTCCCCTCACCCTCACCCTCCCTCTCCCTCACCCTCCCTCT CCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTC CCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCTCC CTCTCCCTCACCTTCCCTCTCCCCTACCCTCCCTCTCCCTCACCCTCCCT CTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTC TCCCCTTACCCTCCCCCTCCCTCTCCCTCACCTTCCCTCTCCCCTACCCT CCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTC CCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTC CCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCC TCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTC TCCCTCACCCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCT CCCTCACCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCCTCCATCTCC CCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTC TCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTC ACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACCCTCCCTCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0001 a0002c0021t0001	a0002c0021t0001g0224 a0002c0021t0001g0224	1	257	0.0039	-797	c.249 others(19): Show c.2495+1360_2496-1558del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SYNM_chr15_99100080_99140593	99116396	ACTGCCCC others(790): Show ACTGCCCCAAGTCAGAAAAAGAATTTATTACTCATATACCTGAAAGTCTT GTGCTGGTCTACTCTGTGTTATGAAGGAATAACTGAGACTGGATAATTTG CAAAGAAAAGAGGTTTATTTTGGCCCACAGTTGTGCAGGCTGTACCGGAA TCGTGGTGCTGGCATCTGCTCCTGGTGAAGCCTCAGGAAGCATACAGTCA TGGTGGAAGGTGAAAGGGCAGCAGGCATGTCACATGGCAAGAGAGCGAGC AAGAGAGTGGGGAGGTGTCAGGTTCTTTTTTTTTCTTTTTGACATGGAGT CTCACTCTGTCACCCAGGCTGGAGTGTGGTGGTGCGATCTTGGCTCACTG CAACCTCTACCTCACGGGTTCAAGCAATTCTCCTGATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCATGCCTGGCTAATT CTTGTATTTTTAGTAAAGACGGGGTTTCACCATATTGGCCAGGCTGGTAT TGAACTCCTGACCTTGTGATCCACCCGCCTCAGCCTCTCAAAGTGCTGGG ATTACAGGCATGAGCCCCTGTGCCTAGCCGGTGCTGGGTTCTTTTAAACA ACCAGATCTCATGTGGACTCATAGAGTGAGAACTCACTCATTACTGAGAG GACAGCACGAAGCCATTGATGAGCGATCCCCCCCATAACCCAAACACCTT CCTCTAGGCCCCACCTTCAACACGGAGGTCACATTTCAACATGAGATTAG GAGAAGACACACATCCAAACCGTATCAAATCCTTAGTTTCAGGTACAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp1 others(99): Show HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00597.hp2 HG00621.hp1 HG00738.hp1 HG00741.hp2 HG01081.hp1 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01515.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02155.hp2 HG02273.hp1 HG02602.hp2 HG02735.hp2 HG02809.hp2 HG02896.hp2 HG02965.hp2 HG03017.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03710.hp1 HG03831.hp1 HG04204.hp1 HG04228.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19090.hp2 NA20129.hp1	a0001 a0003 a0005 others(9): Show a0001 a0003 a0005 a0006 a0008 a0014 a0022 a0028 a0029 a0037 a0042 a0044	a0001c0001 a0001c0007 a0003c0003 others(14): Show a0001c0001 a0001c0007 a0003c0003 a0003c0024 a0003c0063 a0005c0006 a0006c0040 a0006c0044 a0008c0011 a0008c0029 a0014c0013 a0022c0045 a0028c0046 a0029c0050 a0037c0054 a0042c0032 a0044c0047	a0001c0001t0003 a0001c0007t0001 a0001c0007t0009 others(19): Show a0001c0001t0003 a0001c0007t0001 a0001c0007t0009 a0003c0003t0001 a0003c0003t0003 a0003c0003t0012 a0003c0003t0025 a0003c0024t0003 a0003c0063t0003 a0005c0006t0004 a0006c0040t0030 a0006c0044t0002 a0008c0011t0004 a0008c0011t0020 a0008c0029t0004 a0014c0013t0006 a0022c0045t0003 a0028c0046t0003 a0029c0050t0004 a0037c0054t0003 a0042c0032t0003 a0044c0047t0002	a0001c0001t0003g0157 a0001c0007t0001g0094 a0001c0007t0009g0090 others(60): Show a0001c0001t0003g0157 a0001c0007t0001g0094 a0001c0007t0009g0090 a0003c0003t0001g0004 a0003c0003t0001g0036 a0003c0003t0001g0101 a0003c0003t0003g0003 a0003c0003t0003g0004 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0068 a0003c0003t0003g0072 a0003c0003t0003g0076 a0003c0003t0003g0077 a0003c0003t0003g0078 a0003c0003t0003g0079 a0003c0003t0003g0083 a0003c0003t0003g0084 a0003c0003t0003g0088 a0003c0003t0003g0091 a0003c0003t0003g0092 a0003c0003t0003g0093 a0003c0003t0003g0095 a0003c0003t0003g0096 a0003c0003t0003g0098 a0003c0003t0003g0099 a0003c0003t0003g0100 a0003c0003t0003g0103 a0003c0003t0003g0189 a0003c0003t0003g0194 a0003c0003t0003g0195 a0003c0003t0012g0003 a0003c0003t0012g0074 a0003c0003t0025g0004 a0003c0024t0003g0004 a0003c0024t0003g0087 a0003c0063t0003g0003 a0005c0006t0004g0011 a0005c0006t0004g0031 a0005c0006t0004g0056 a0005c0006t0004g0057 a0005c0006t0004g0059 a0005c0006t0004g0060 a0005c0006t0004g0061 a0005c0006t0004g0063 a0005c0006t0004g0064 a0005c0006t0004g0190 a0006c0040t0030g0085 a0006c0044t0002g0097 a0008c0011t0004g0010 a0008c0011t0004g0058 a0008c0011t0020g0010 a0008c0029t0004g0133 a0014c0013t0006g0025 a0014c0013t0006g0082 a0014c0013t0006g0089 a0022c0045t0003g0003 a0028c0046t0003g0086 a0029c0050t0004g0191 a0037c0054t0003g0062 a0042c0032t0003g0004 a0044c0047t0002g0003	102	418	0.2440	-797	c.935 others(17): Show c.935+2685_935+3481del	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZFAND6_chr15_80054676_80143393	80133428	CAGGTGAT others(790): Show CAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGAGTGG AACCGCCACACCTGGCCGGTTTGGTAATTTTAGAAAAAGGTTTGGCTTTG AAAAAGTCAAGATAACAGGAGAAACAGCTTCTGCCAGAAAAGAGGCAGTA GGTTCCCAAACTACATTAAGAAAGTTCCCAAACTATATTAAGTTGTTGGA GAAAGAGTATCTGCCTGAACAAGTTTTTAATGCAGACAAAAGTGCCCTAT TCTGGAAGAAAAAGGTCACAAAGATCTAAGGAAGAAAAGTGAATACTAGG ACTTAAGGCAGGAGGAGATCGTCTAACTTTACTGTTTTGCGCAAATGCAG TTGGGTTTATGATCAGAACTGCCATTACCTATAAAGCTGCTAACCCGAGT CTTGAAGGGAAAAAGATAAACACCAGCTGCCAGTCTTTTGGTTGTACAAC AGGAACGCTTAAACAATATGAACCCTTTTTCGTGATCGGTTACATTAATG CTTTGTCCCTGAAATCAGAAAGTATCTTGCTAGTAAGGGACTGCCTTTTA AAGTTGTTGGGTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTTTCG CCTAGGCTGGAGTGCAGTGGCGCACTCTCCACTCACTGCAACCTCCTCCT CCTGGGTTCTAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTA CAGGCGTACTCCACCATGCCCAACTAATTTCTTTGTATCTTTAGTAGAGA CGGGGTTTCGCCCTGTTGGCCAAGCTGGTCCCAAACTCCTGATCGCAG	C C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0225 a0001c0001t0006g0225	1	372	0.0027	-797	c.478 others(17): Show c.478+2136_478+2932del	ZFAND6	ENSG00000086666.19	transcript	ENST00000261749.11	protein_coding	6/6			chr15	TogoVar
B3GNTL1_chr17_82937149_83056770	82974968	TATGGAGA others(789): Show TATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGG CCGGAGGCCACTTATGGGGAACCAGGGCCCCAGGACAGAGCCCGACTCCA TCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGA GCCGGACTCCATCCTCCCAGGGGCCGGAGGCCACTTATGGGGAACGAGGG CCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATG GAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGGCCGG AGGCCACTTATGGGGAACGAGGGCCCCGGGACAGAGCCGGACTCCATCCT CCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCG GACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCG GGACAGAGCCGGACTCCATCCTCCCAGGGGCTGGAGGCCACTTATGGGGA ACGAGGGCCCCGGGACAGAGCCGAACTCCATCCTCCCAGGGACCAGAGGC CACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAG GGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTC CATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACA GAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGG GCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCAC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0223 a0001c0003t0015g0223	1	266	0.0038	-796	c.460 others(18): Show c.460-10018_460-9223del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
C13orf46_chr13_113948705_113979076	113955256	CATCTGGC others(789): Show CATCTGGCGGAGAGGAGGAGTAGTATCTGGCGGAGAGGAGTAGTATCTGG CAGAGAGGAGTAGTATCTGGTGGAGAGGAGGAGTAGTATCTGGTGGAGAG GAGGAGCATCCGGCGGAGAGGAGGAGCATCCGGCGGAGACGAGGAGCATC CGGCGGTGACGAGGAGCATCCGGCGGAGATGAGGAGCATCCGGTGGAGAG GAGGAGCATCTCGAGGAGCGGAGGAGCATCTGGCGGAGACGAGGAGCATC TCGTGGAGCGGAGGAGCATCTGGCGGAGACGAGGAGCATCTCGTGGAGAG GAGGAGCATCTCGTGGAGAGGAGGAGCATCTCGTGGAGCGGAGGAGCATC TGGCAGAGACGAGGAGTAGTGTCTGGCGGAGACGAGGAGTAGTGTCTGGC AGAGACAAGGAGTAGTGTCTGGCAGAGACGAGGAGTAGTGTCTGGCGGAG AGGAGGAGTAGTGTCTGGCAGAGACGAGGAGTAGTGTCTGGCAGAGAGGA GGAGCATCCGGCGGAGACGAGGAGCAGCCGGCGGAGACGAGGAGCAGCCG GCGGAGACGAGGAGCAGCCGGTGGAGACGAGGAGCATCTCGAGGAGAGGA GGAGCATCTCGAGGAGAGGAGGAGCATCCGGTGGAGAGGAGGAGCATCTC GCAGAGAGGAGGAGCATCTCGCGGAGACGAGGAGCATCTGGCGGAGACGA GGAGGAGCATCTGGCGGAGACGAGGAGTAGGATCTGGCAGAGAGGAGGAG TAGGATCTGGCGGAGAGGAGGAGTAGGATCTGGCAGAGAGGAGTAGG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG01070.hp1 HG01071.hp2 others(5): Show HG00735.hp1 HG01070.hp1 HG01071.hp2 HG02615.hp1 HG02896.hp2 HG02897.hp1 HG03471.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0034 a0001c0001t0089 others(1): Show a0001c0001t0020 a0001c0001t0034 a0001c0001t0089 a0001c0001t0091	a0001c0001t0020g0048 a0001c0001t0020g0158 a0001c0001t0020g0172 others(3): Show a0001c0001t0020g0048 a0001c0001t0020g0158 a0001c0001t0020g0172 a0001c0001t0034g0046 a0001c0001t0089g0165 a0001c0001t0091g0150	8	412	0.0194	-796	c.72 others(10): Show c.721_*1516del	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	7/7	721		chr13	TogoVar
NFATC1_chr18_79390930_79534323	79473629	GTTGCAAG others(789): Show GTTGCAAGGGAAGCGTGTTCTCGCGCTCACTGTCGACGTTGTAAACCTGA GGGAAGCGTGTTCTCACACTCACTGTCGACGTTGCAAGGGAAGCGTGTTC TCACACTCACTGTCGACGTTGTGAGGGAAGTGTATTCTCACGCTGTCGAC ATAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTTGACGTAAACCTGA GGGAAGTGTGTTCTCACACTCACTGTCAACGTTGTAAACCTGAGGGAAGC GTGTTCTCACACTCACTGTCGACGTTGTGAGGGAAGCGTGTTCTCACGCT CACTGTCGACATTGTAAACCTGAGGGAAGCGTGTTCTCGCGCTCACTGTC GACGTTGCGAGGGAAGCGTTTTCACACTCACTGTCGACGTAAACCTGAGG GAAGCGTGTTCTCACGCTCGCTGTCAACGTAAACCTGAGGGAAGCGTGTT CTCACGCTCACTGTCGACGTTGTAAACCTGAGGGAAGCGTGTTCTCACGC TCGCTGTCGACGTTGTAAACCTGAGGGAAGCGTGTTCTCACGCTCGCTGT CGACGTAAACCTGAGGGAAGCGTGTTCTCATGCTCACTGTCGACGTAAAC CTGAGGGAAGCGTGTTCTCGCGCTCACTGTCGACGTAAACCTGAGGGAAG CGTGTTCTCACGCTCACTGTCGACATTGTAAACCTGAGGGAAGCGTGTTC TCGCGCTCACTGTCGACGTTGTAAACCTGAGGGAAGCGTGTTCTCACGCT CACCGTCGACGTAAACCTGAGGGAAGCGTGTTCTCTCACTGTCAACT	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0254 a0002c0003t0001g0254	1	295	0.0034	-796	c.209 others(19): Show c.2092+6164_2092+6959del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79473746	GTTGTGAG others(789): Show GTTGTGAGGGAAGTGTATTCTCACGCTGTCGACATAAACCTGAGGGAAGC GTGTTCTCACGCTCACTGTTGACGTAAACCTGAGGGAAGTGTGTTCTCAC ACTCACTGTCAACGTTGTAAACCTGAGGGAAGCGTGTTCTCACACTCACT GTCGACGTTGTGAGGGAAGCGTGTTCTCACGCTCACTGTCGACATTGTAA ACCTGAGGGAAGCGTGTTCTCGCGCTCACTGTCGACGTTGCGAGGGAAGC GTTTTCACACTCACTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGC TCGCTGTCAACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACTGTCGA CGTTGTAAACCTGAGGGAAGCGTGTTCTCACGCTCGCTGTCGACGTTGTA AACCTGAGGGAAGCGTGTTCTCACGCTCGCTGTCGACGTAAACCTGAGGG AAGCGTGTTCTCATGCTCACTGTCGACGTAAACCTGAGGGAAGCGTGTTC TCGCGCTCACTGTCGACGTAAACCTGAGGGAAGCGTGTTCTCACGCTCAC TGTCGACATTGTAAACCTGAGGGAAGCGTGTTCTCGCGCTCACTGTCGAC GTTGTAAACCTGAGGGAAGCGTGTTCTCACGCTCACCGTCGACGTAAACC TGAGGGAAGCGTGTTCTCTCACTGTCAACTTTGCAAGGGAAGCGTGTTCT CGCGCTCACTGTCGACGTTGTAAACCTGAGGGAAGCGTGTTCTCACACTC ACTGTCGACGTTGCAAGGGAAGCGTGTTCTCACACTCACTGTCGACA	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0010 a0010	a0010c0049 a0010c0049	a0010c0049t0002 a0010c0049t0002	a0010c0049t0002g0306 a0010c0049t0002g0306	1	320	0.0031	-796	c.209 others(19): Show c.2092+6385_2092+7180del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
RPH3AL_chr17_207389_357807	287475	TCTCTCCA others(789): Show TCTCTCCACCGTCAGACCTCACTCCCTCTCTCTCCACCGTCAGACCTCAC TCCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTC GCACCCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACC TCACACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCA GAGCTCGCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCA CCGACAGACCTCGCACCCTCTCTCTCCACCGACAGACCTCGCACTCTCTC TCCACCGACAGACCTCGCACGCTCTCTCTCCACCGTCAGACCTCACACTC TCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGACAGACCTCACAC TCTCTCTCCACCGACAGAGCTCACACTCTCTCTCCACCGTCAGACCTCAC TCTCTCTCTCCACCGTCAGACCTCCCACCCTCTCTCCACCGTCAGACCTC GCACCCTCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGA CCTCACTCCCTCTCTCCACCGTCAGACCTCACTCCGTCTCTCCACCGTCA GACCTCGCACCCTCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACC GTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCA CCGTCAGACCTCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTC TCCACCGTCAGGCCTCACACCCTCTCTCCACCGTCAGACCTCACACC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0048 a0001c0004t0001g0048	1	132	0.0076	-796	c.352 others(17): Show c.352-6417_352-5622del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
BMPR2_chr2_202371327_202572749	202479394	CTGGCAGA others(788): Show CTGGCAGAGCACTTATATAAACAGTATGTAGATTCCCATAGAAACTGTGA GATAATAAAATTTTTTTAATAAAAAAAAGTAGAGCAGTTTAGGTTGATAG CAAAATTGAGAGGAAAGAAGAGAATTCCCGTTATCTCCCCTCTGCTCCCA CACATGCATAGCCTCCCCCATTATCAACATTCCCACCAGAGTGGCACATA ATACAGTTAAGTATTTGTATTTACACATTAAAACCTCCAAACACATGCTT GAGATGGGGTGTGCAGTAATAAGCACTACTGTGTTTTAACCTTTGGCAGC TTTTATTCTTTCCTCCCAACTTTCAATTATTTTCTTTTCATTTCCAATTT TTTAACCTTTCTCTACTTGAAAATAGTGACCAGTTTCTTTTTGGTTATAG TCATCCTAATGTGTATGATGTAATATCTCATTATGGTTTTGGTTTTCATT TCCGTAATGAATAATGGTGATGAGCATCTTTTCCTGTGCTTCTTAAACAT TGTATATTTTATTTGGTAAAATGTTAATTCAAACCCATTGCCCATATAAA AATTGTGCATATTTGTCTTTTTATTGTTGAGTTGTAAAAGTTCTTTTTAC ATAGTAGATACAAGTCTCATTCTTTGGCTTGTCATTTTACTTAGTTGGTG GTATTCTTTGAGGTACATAGTTTTGACATTTTTAATGAAGTCTAATTTAT CTTTTTTTATTTTGTCACTCTGAAACCATTTTCTTTTTCTTTTTCTTTTT TTTCTTTTAAATGGAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAG	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0143 a0001c0001t0041g0143	1	222	0.0045	-795	c.418 others(19): Show c.418+11709_418+12503del	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar

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