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
ZNF652_chr17_49284206_49367250	49304055	A A	ATTTTTTT others(660): Show ATTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGGCAGGGTTTCACT GTATTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATTCGCCCACCTC AGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCAT GTAGTTTGTTTTCTAAATTAAATATGATTTACTTGTACAATAAAATACTT TAAAAGCACATGTTTGATTAACCTCTAAGCTCCCCTGCTCTGTGACTTCA GAGTTAGTATTCTTCACACCTAGCAGCCATATGGAAACACAGCCAAAGGC CCTAATCTTTGAATTTTAGTCTAGTATGAGCAAATCCTCTCCACATTATT TACTAATCACTTCTTAGGCACACTAGACACTACTCACAGACAGAATGGAT TCCCTGAGCAGTTACTGAATGTATGGATGTTTAGGTTTTTTATGTGCTCA AATCCCCTTCCTGGACCTCTCTAATCATCTCTCATTTGCAGTCTTCTTTT TTTTTGTTTTTTCCTGAGACACAGTCTCGCTCAGTCACCCAGGCCGGAGT GCAGTGGTGTGATCTCAGCTCACTGCAAGCTCCACCTCTCAGGTTCATGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCA CCATGCCTGGCTAATTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp2 HG02895.hp2 others(3): Show HG02615.hp2 HG02647.hp2 HG02895.hp2 HG02965.hp1 HG03130.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0039 a0001c0001t0056 others(1): Show a0001c0001t0033 a0001c0001t0039 a0001c0001t0056 a0001c0001t0057	a0001c0001t0033g0005 a0001c0001t0033g0007 a0001c0001t0039g0035 others(3): Show a0001c0001t0033g0005 a0001c0001t0033g0007 a0001c0001t0039g0035 a0001c0001t0039g0036 a0001c0001t0056g0004 a0001c0001t0057g0006	6	157	0.0382	667	c.131 others(686): Show c.1310-5132_1310-5131insAAAATTAGCCAGGCATGGTGGCGGGC GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAAC CTGAGAGGTGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGC CTGGGTGACTGAGCGAGACTGTGTCTCAGGAAAAAACAAAAAAAAAGAAG ACTGCAAATGAGAGATGATTAGAGAGGTCCAGGAAGGGGATTTGAGCACA TAAAAAACCTAAACATCCATACATTCAGTAACTGCTCAGGGAATCCATTC TGTCTGTGAGTAGTGTCTAGTGTGCCTAAGAAGTGATTAGTAAATAATGT GGAGAGGATTTGCTCATACTAGACTAAAATTCAAAGATTAGGGCCTTTGG CTGTGTTTCCATATGGCTGCTAGGTGTGAAGAATACTAACTCTGAAGTCA CAGAGCAGGGGAGCTTAGAGGTTAATCAAACATGTGCTTTTAAAGTATTT TATTGTACAAGTAAATCATATTTAATTTAGAAAACAAACTACATGGCCAG GCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGG CGAATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAATACAGTGAAAC CCTGCCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAA	ZNF652	ENSG00000198740.9	transcript	ENST00000430262.3	protein_coding	5/5			chr17	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(661): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACC TCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTC AGCCCACCCCCCCCACACATCACCTCAGTCCACCCAACACATCACCTCAG CCCACCCAACACGTCACCTCAGCCCACCCAACACATCACCTCAGTCCACC CAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAA CACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATC ACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCAC CTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCT CAGCCCACCCCCCCCACACATCACCTCAGTCCACCCAACACATCACCTCA GCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCAC CCCCCGCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCA ACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACAT CACCTCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18971.hp2 NA18999.hp2 others(1): Show NA18940.hp1 NA18971.hp2 NA18999.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015	a0001c0001t0002g0087 a0001c0001t0004g0291 a0001c0001t0005g0292 others(1): Show a0001c0001t0002g0087 a0001c0001t0004g0291 a0001c0001t0005g0292 a0001c0001t0015g0293	4	205	0.0195	668	c.61+ others(683): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGTGTTGGGT GGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGG TGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGT GTTGGGTGGACTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCG GGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGG GGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGG TGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAG GTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAGGTGATG TGTTGGGTGGACTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTC GGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTG GGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGG GTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173269	A A	ACATCACC others(661): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACAT CACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCA CCTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCA CCTCAGTCCACCCAACACATCACCTCAGCCCACCCAACACGTCACCTCAG CCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACC CCCCGCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAA CACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACA TCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTC ACCTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATC ACCTCAGTCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCA GTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCC CACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCC CCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACAT CACCTCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18980.hp2 NA19056.hp1 others(1): Show NA18944.hp2 NA18980.hp2 NA19056.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0021 a0001c0001t0005 a0001c0001t0010 a0001c0001t0021	a0001c0001t0005g0272 a0001c0001t0005g0274 a0001c0001t0010g0275 others(1): Show a0001c0001t0005g0272 a0001c0001t0005g0274 a0001c0001t0010g0275 a0001c0001t0021g0273	4	321	0.0125	668	c.61+ others(683): Show c.61+6397_61+6398insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGA TGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGT GTTGGGTGGGCTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTGGGG GGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGG GGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGG TGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAG GTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGACG TGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTGGG GGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGG GGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGG GTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ARHGAP39_chr8_144524179_144690846	144687228	C C	CCCCCGTG others(661): Show CCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACA CACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCA CTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGA CCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGT GAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACC CCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACAC TAGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTT CCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCA CACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAG CACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCGT GACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCG GTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCAC CCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACAC TGGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18947.hp1 NA18941.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0181 a0001c0001t0001g0182	2	210	0.0095	668	c.-16 others(679): Show c.-1625_-1624insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTG CTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTG TGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGG AAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCTGTAA ATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG GGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAG TGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTG TGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGT GGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1383		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687228	C C	CCCCGTGA others(661): Show CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGAC CACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTG AGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCC CGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGTGACCACACACTA GCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCC CACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCAC ACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGC ACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGT GACCACTCATTTACAGCGAGCACTTCCCACCCCGTGACCACACACTAGCG GTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCAC CCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACAT TTACAGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0190 a0001c0001t0005g0191 a0001c0001t0005g0190 a0001c0001t0005g0191	2	210	0.0095	668	c.-16 others(679): Show c.-1625_-1624insTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTC ACGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTG CTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGT GTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTG GGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGC TAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACG GGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTC ACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTG GTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGA AGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAG TGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGG TGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1383		chr8	TogoVar
ATP9B_chr18_79064394_79383283	79327856	A A	ATGGATAG others(661): Show ATGGATAGTGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGGTAGCGTGCT CTCTCTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTCTGGTTAGCG TGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTT AGCGTGCTCTCTCTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTGT GGTTAGCGTGCTCTCTGTGGTTAGCGTGCTCTCCGTGGATAGTGTGCTCT CTGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCCCTCCGTGGTTAGTGTG CCCTCCCTGGTTAGCGTGCTCTCCGTGTTTAGCGTGCTCTCCGTGTTTAG CGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAACGTGCTCTCCGTGG TTAACGTGCCCTCCGTGGTTAGCGTGCCCTCCGTGGTTAGTGTGCCCTCC CTGGTTAGCGTGCTCTCCGTGTTTAGCGTGCTCTCCGTGTTTAGCGTGCT CTCCGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAG CGTGCTCGCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGG TTAACGTGCTCTCTGTGGTTAGTGTGCTCTCCGTGGTTAGCGTGTTCTCC GTGGTTAGTGTGTTCTCCG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03453.hp2 HG03098.hp2 HG03453.hp2	a0011 a0012 a0011 a0012	a0011c0030 a0012c0023 a0011c0030 a0012c0023	a0011c0030t0001 a0012c0023t0001 a0011c0030t0001 a0012c0023t0001	a0011c0030t0001g0253 a0012c0023t0001g0042 a0011c0030t0001g0253 a0012c0023t0001g0042	2	196	0.0102	668	c.177 others(687): Show c.1774-1282_1774-1281insATAGTGTGCTCTCCGTGGTTAGCGTG CTCTCCGTGGGTAGCGTGCTCTCTCTGGTTAGCGTGCTCTCCGTGGTTAG CGTGCTCTCTCTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGG TTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTCTGGTTAGCGTGCTCTCC GTGGTTAGCGTGCTCTCTGTGGTTAGCGTGCTCTCTGTGGTTAGCGTGCT CTCCGTGGATAGTGTGCTCTCTGTGGTTAGCGTGCTCTCCGTGGTTAGCG TGCCCTCCGTGGTTAGTGTGCCCTCCCTGGTTAGCGTGCTCTCCGTGTTT AGCGTGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGT GGTTAACGTGCTCTCCGTGGTTAACGTGCCCTCCGTGGTTAGCGTGCCCT CCGTGGTTAGTGTGCCCTCCCTGGTTAGCGTGCTCTCCGTGTTTAGCGTG CTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAG TGTGCTCTCTCCATGGTTAGCGTGCTCGCCGTGGTTAGCGTGCTCTCCGT GGTTAGCGTGCTCTCCGTGGTTAACGTGCTCTCTGTGGTTAGTGTGCTCT CCGTGGTTAGCGTGTTCTCCGTGGTTAGTGTGTTCTCCGTGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(661): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGGCGGGCGAGTAGACGGTC GGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGGCGAGTAGAC GGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGGCGGGCGAGT AGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTG AGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTG AGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTG AGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCA GGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0216 a0001c0031t0001g0216	1	103	0.0097	668	c.300 others(685): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGGC GGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGG GGCGGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGT ACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCG GGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN11_chr6_44153820_44189401	44182074	A A	ACACACAC others(661): Show ACACACACACACTCACATACAGACACAACCACACCACACACACACACACA CTCACATACAGACACAACCACACCACACTCACACATACACACTCACATAC AGACACAACCACACCACACACACACACACACTCACATACAGACACAACCA CACCACACACACACACACACTCACATACAGACACAACCACACCACACACA CACATACACACTCACATACAGACACAACCACACCACACACACACACATAC ACACTCACATAGACACAACCACACCACACTCACACACACACATACACACT CACATACAGACACAACCACACCACACACACACACACACACTCACATACAG ACACAACCACACCACACTCACACACACACACACTCACATACAGACACAAC CACACCACACACACACATACACACTCACATACAGACACAACCACACCACA CTCACACACACATACACACTCACATACAGACACAACCACACCACACACAC ACATACACACTCACATACAGACACAACCACACCACACTCACACACACACA TACACACTCACATACAGACACAACCACACCACACTCACACACACACATAC ACACTCACATACAGACACAACCACACCACACTCACACACACACATACACA CTCACATACACAACCACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	428	0.0023	668	c.193 others(685): Show c.1938+765_1938+766insTCACATACAGACACAACCACACCACACA CACACACACACTCACATACAGACACAACCACACCACACTCACACATACAC ACTCACATACAGACACAACCACACCACACACACACACACACTCACATACA GACACAACCACACCACACACACACACACACTCACATACAGACACAACCAC ACCACACACACACATACACACTCACATACAGACACAACCACACCACACAC ACACACATACACACTCACATAGACACAACCACACCACACTCACACACACA CATACACACTCACATACAGACACAACCACACCACACACACACACACACAC TCACATACAGACACAACCACACCACACTCACACACACACACACTCACATA CAGACACAACCACACCACACACACACATACACACTCACATACAGACACAA CCACACCACACTCACACACACATACACACTCACATACAGACACAACCACA CCACACACACACATACACACTCACATACAGACACAACCACACCACACTCA CACACACACATACACACTCACATACAGACACAACCACACCACACTCACAC ACACACATACACACTCACATACAGACACAACCACACCACACTCACACACA CACATACACACTCACATACACAACCACACCACACACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(661): Show GGCTAATTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTTTTCTG TTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTA GATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGA TCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGT ATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGC TTTTTTAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAA GAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTA CTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCC AGGCTGGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCC GGGTTCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCACCCACTACCACGCCCA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0021 a0014c0021t0021	a0014c0021t0021g0005 a0014c0021t0021g0005	1	85	0.0118	668	c.110 others(685): Show c.1108+299_1108+300insGTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTT TTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTT TCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATA ACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATA AGTGTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGAT TTGGCTTTTTTAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTG GCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAA AGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGT CGCCCAGGCTGGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGC ATCCCGGGTTCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCACCCACTACCACGCCCAGCTAATTTTTTGTATT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CELF4_chr18_37238040_37570798	37283949	T T	TATAGCCC others(661): Show TATAGCCCAACACACACATACGCATACACACACCAATACATGCACCATGC ATATACCCCAACATACACACACACACACACACACTGCAATACACACACCA CACATACACCCCAACACACACACACACACATACAGACACCAATACATACA CCATGCATATACCCCAACACACACACACCCCCAATACACTCACAACACAT ACACCCCAACACACACACACCCCCAATACACACACCACACATATACCCCA ACACACACACACACACACCCAATACACACACCACACATATACCCCAACAC ACACACACCAATACATGCACCAACACATATACCCCAACATACACACACAC CCCCAACACACACCAAAGCATATACGCCAACACACACACACATACACAGC AATGCATTACCCCAACATACACACACAGACACACACACAATACACACACC AATACACACCAATGCATATACCCCAACATACACACATATAGCAACATACA CCCTAACACACATACATACACATACACACACCAAATAGACACACACCCCA ACACACACAACCAACACCCCCACACACCCAACACACACACATACACGTAC ACACACATCAACACATAACTATGCACCCCAACACACACACACACACAACA TACACACATATACACATAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp2 HG01081.hp2 others(11): Show HG00408.hp2 HG00642.hp2 HG01081.hp2 HG02132.hp2 HG02148.hp1 HG02280.hp2 HG02647.hp2 HG02965.hp2 HG03041.hp1 HG03130.hp1 HG03453.hp1 HG04184.hp2 NA18964.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 others(11): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0031 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0002t0016 a0001c0002t0036	a0001c0001t0003g0155 a0001c0001t0008g0136 a0001c0001t0009g0010 others(11): Show a0001c0001t0003g0155 a0001c0001t0008g0136 a0001c0001t0009g0010 a0001c0001t0014g0035 a0001c0001t0031g0034 a0001c0002t0002g0166 a0001c0002t0003g0073 a0001c0002t0005g0068 a0001c0002t0008g0119 a0001c0002t0010g0060 a0001c0002t0012g0047 a0001c0002t0013g0009 a0001c0002t0016g0092 a0001c0002t0036g0150	14	52	0.2692	668	c.449 others(685): Show c.449-8707_449-8706insGTATGTGTATATGTGTGTATGTTGTGTG TGTGTGTGTGTTGGGGTGCATAGTTATGTGTTGATGTGTGTGTACGTGTA TGTGTGTGTGTTGGGTGTGTGGGGGTGTTGGTTGTGTGTGTTGGGGTGTG TGTCTATTTGGTGTGTGTATGTGTATGTATGTGTGTTAGGGTGTATGTTG CTATATGTGTGTATGTTGGGGTATATGCATTGGTGTGTATTGGTGTGTGT ATTGTGTGTGTGTCTGTGTGTGTATGTTGGGGTAATGCATTGCTGTGTAT GTGTGTGTGTGTTGGCGTATATGCTTTGGTGTGTGTTGGGGGTGTGTGTG TATGTTGGGGTATATGTGTTGGTGCATGTATTGGTGTGTGTGTGTTGGGG TATATGTGTGGTGTGTGTATTGGGTGTGTGTGTGTGTGTGTTGGGGTATA TGTGTGGTGTGTGTATTGGGGGTGTGTGTGTGTTGGGGTGTATGTGTTGT GAGTGTATTGGGGGTGTGTGTGTGTTGGGGTATATGCATGGTGTATGTAT TGGTGTCTGTATGTGTGTGTGTGTGTGTTGGGGTGTATGTGTGGTGTGTG TATTGCAGTGTGTGTGTGTGTGTGTGTATGTTGGGGTATATGCATGGTGC ATGTATTGGTGTGTGTATGCGTATGTGTGTGTTGGGCTAT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	3/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37283949	T T	TATAGCCC others(661): Show TATAGCCCAACACACACATACGCATACACACACCAATACATGCACCATGC ATATACCCCAACATACACACACACACACACACTGCAATACACACACCACA CATACACCCCAACACACACACACACACATACAGACACCAATACATACACC ATGCATATACCCCAACACACACACACCCCCAATACACTCACAACACATAC ACCCCAACACACACACACCCCCAATACACACACCACACATATACCCCAAC ACACACACACACACACCCAATACACACACCACACATATACCCCAACACAC ACACACCAATACATGCACCAACACATATACCCCAACATACACACACACCC CCAACACACACCAAAGCATATACGCCAACACACACACACATACACAGCAA TGCATTACCCCAACATACACACACAGACACACACACAATACACACACCAA TACACACCAATGCATATACCCCAACATACACACATATAGCAACATACACC CTAACACACATACATACACATACACACACCAAATAGACACACACCCCAAC ACACACAACCAACACCCCCACACACCCAACACACACACATACACGTACAC ACACATCAACACATAACTATGCACCCCAACACACACACACACACACAACA TACACACATATACACATAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG00741.hp1 others(14): Show HG00639.hp2 HG00642.hp1 HG00741.hp1 HG01081.hp1 HG01109.hp2 HG01192.hp1 HG01258.hp2 HG01433.hp1 HG01496.hp2 HG02074.hp2 HG02109.hp2 HG02683.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0020 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0010 a0001c0002t0011 a0001c0002t0022	a0001c0001t0001g0158 a0001c0001t0004g0024 a0001c0001t0004g0025 others(14): Show a0001c0001t0001g0158 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0005g0105 a0001c0001t0005g0140 a0001c0001t0009g0018 a0001c0001t0020g0057 a0001c0002t0001g0054 a0001c0002t0001g0076 a0001c0002t0001g0098 a0001c0002t0001g0134 a0001c0002t0001g0147 a0001c0002t0003g0064 a0001c0002t0004g0037 a0001c0002t0010g0063 a0001c0002t0011g0135 a0001c0002t0022g0156	17	55	0.3091	668	c.449 others(685): Show c.449-8707_449-8706insGTATGTGTATATGTGTGTATGTTGTGTG TGTGTGTGTGTGTTGGGGTGCATAGTTATGTGTTGATGTGTGTGTACGTG TATGTGTGTGTGTTGGGTGTGTGGGGGTGTTGGTTGTGTGTGTTGGGGTG TGTGTCTATTTGGTGTGTGTATGTGTATGTATGTGTGTTAGGGTGTATGT TGCTATATGTGTGTATGTTGGGGTATATGCATTGGTGTGTATTGGTGTGT GTATTGTGTGTGTGTCTGTGTGTGTATGTTGGGGTAATGCATTGCTGTGT ATGTGTGTGTGTGTTGGCGTATATGCTTTGGTGTGTGTTGGGGGTGTGTG TGTATGTTGGGGTATATGTGTTGGTGCATGTATTGGTGTGTGTGTGTTGG GGTATATGTGTGGTGTGTGTATTGGGTGTGTGTGTGTGTGTGTTGGGGTA TATGTGTGGTGTGTGTATTGGGGGTGTGTGTGTGTTGGGGTGTATGTGTT GTGAGTGTATTGGGGGTGTGTGTGTGTTGGGGTATATGCATGGTGTATGT ATTGGTGTCTGTATGTGTGTGTGTGTGTGTTGGGGTGTATGTGTGGTGTG TGTATTGCAGTGTGTGTGTGTGTGTGTATGTTGGGGTATATGCATGGTGC ATGTATTGGTGTGTGTATGCGTATGTGTGTGTTGGGCTAT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	3/12			chr18	TogoVar
CLPTM1L_chr5_1312752_1350099	1333252	A A	AGATGAGG others(661): Show AGATGAGGATAAGGGGGGGACTACTGTAGATACACGGGATGAGGATAAGG GGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATAC ACATTGGATGAGGATAAGGGGGGACTATTGTATACACACCAGATGAGTAT AAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTG TATACACACCGGATGAGGATAAGGGGAGACTACTGTATACACACGGGATG AGGATGAGGGACTATTGTATACACACCAGATGAGGATAAGGGGGGACTAC TGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACACACACGG GATGAGGATAAGGGGGGACTACTGTATACACATTGGATGAGGATAAGGGG GGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACA CACCAGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATA AGGGGAGACTACTGTATACACACCGGATGAGGATAAGGGGAGACTACTGT ATACACACGGGATGAGGATGAGGGACTATTGTATACACACCAGATGAGGA TAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGGACTAC TGTATACACACCGGATGAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG02572.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0102 a0001c0001t0001g0103	2	239	0.0084	668	c.891 others(685): Show c.891+1036_891+1037insCTCATCCGGTGTGTATACAGTAGTCCCC CCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCT GGTGTGTATACAATAGTCCCTCATCCTCATCCCGTGTGTATACAGTAGTC TCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCTCCCCTTATCCTCAT CCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAG TAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATC CTCATCCAATGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTG TATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCC CCTTATCCTCATCTGGTGTGTATACAATAGTCCCTCATCCTCATCCCGTG TGTATACAGTAGTCTCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCC CCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATACTCATC TGGTGTGTATACAATAGTCCCCCCTTATCCTCATCCAATGTGTATACAGT AGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCTTATCCT CATCCCGTGTATCTACAGTAGTCCCCCCCTTATCCTCATC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
COL4A1_chr13_110143963_110312157	110255766	A A	AGGGGAAA others(661): Show AGGGGAAAGGCAGGAAGGGAAGGGGAAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGG AAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGAAAGGCAGGAAG GGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0151 a0001c0007t0001g0151	1	297	0.0034	668	c.85- others(685): Show c.85-13033_85-13032insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCC TCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCC TTTCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTTCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTTCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTTCCCCTTCCCTTCCTGCCTTTCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CRTC3_chr15_90524923_90650345	90647412	C C	CCACAATC others(661): Show CCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCTTACTCC ACACCCCTCCTCCAACCCCTCCTCCACAGACCTCCCTCTCGTCCACACCC CTCCAATTCCACAGCCCTCCTCCACCTCCACACACCCAATCCTCCTCCAG TCCTCCTCCTCCACACACCTTCTCCTCCACACACCTTCTCCTCCACACCT CACCTCCTCCTGCACACCCCTACCCCACCGCACCCCTCCCCCTCCTCCTC CACACTCACTCAACACCCCTCCTCCTCCTCATCCCTCCCCTTTCACACCC CTCCTCAACTTCCACACCCCTCCCCCTCCTCACCCCTCCCACTTCAACTC TCCTCCTCACCCCTCCTCCTCTGCCACACCCCTACTCCTCCTCACCCATC ATCCTCCACGCCCCTTCTCCTCCTCACTCCTCCTCCTCCTCCACACCCCT CCTCCTCACTCCTCCTCCTCCTCCACACCCCTTCTCCTCCTCACCCTTTG TCCTACTCCACACCACTCCTCTGCCTCACCTCTTCTCTTCACCCCTTCTC CTCCTCCATACCCCTCCTTCTCAACTCTCCTCCTCCACACTCCTCCTCAC CCCGTCCTCCTCCAAACCCTTCCCCCTCCTCTTGGTTCCTCCTCCACACC CCTCCTGCTCCACATCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0137 a0002c0002t0019g0137	1	271	0.0037	668	c.52 others(679): Show c.5272_*5273insCACAATCCTCCTCCACACCCCTCCTCCTCCACAA TCCTCCTCTTACTCCACACCCCTCCTCCAACCCCTCCTCCACAGACCTCC CTCTCGTCCACACCCCTCCAATTCCACAGCCCTCCTCCACCTCCACACAC CCAATCCTCCTCCAGTCCTCCTCCTCCACACACCTTCTCCTCCACACACC TTCTCCTCCACACCTCACCTCCTCCTGCACACCCCTACCCCACCGCACCC CTCCCCCTCCTCCTCCACACTCACTCAACACCCCTCCTCCTCCTCATCCC TCCCCTTTCACACCCCTCCTCAACTTCCACACCCCTCCCCCTCCTCACCC CTCCCACTTCAACTCTCCTCCTCACCCCTCCTCCTCTGCCACACCCCTAC TCCTCCTCACCCATCATCCTCCACGCCCCTTCTCCTCCTCACTCCTCCTC CTCCTCCACACCCCTCCTCCTCACTCCTCCTCCTCCTCCACACCCCTTCT CCTCCTCACCCTTTGTCCTACTCCACACCACTCCTCTGCCTCACCTCTTC TCTTCACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAACTCTCCTCCTC CACACTCCTCCTCACCCCGTCCTCCTCCAAACCCTTCCCCCTCCTCTTGG TTCCTCCTCCACACCCCTCCTGCTCCACATCCCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2068		chr15	TogoVar
DPEP1_chr16_89608642_89643433	89618994	G G	GCCCCCTG others(661): Show GCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCTGCT CCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCAT GCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCT GCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCA TGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCC TGCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCC GCTCCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCTCC CTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCC CTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCC CCGCTCCCCTCCCTGCAGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0052 a0002c0002t0003g0052	1	247	0.0040	668	c.-10 others(687): Show c.-107+5288_-107+5289insTGCTCCCCTCCCTGCAGCCCCCCTGC CCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCT GCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCC TGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCG CTCCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCC CTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCC GCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTC CCTGCCCCCCCCGCTCCCCTCCCTGCAGCCCCCCTGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EXOC2_chr6_480154_698139	601974	A A	ACATTCTC others(661): Show ACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACA CCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGC GAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACAC ACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTCTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTCTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT CCACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTC TCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAG AACACCCCGTGTGCGAATC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0143	1	262	0.0038	668	c.743 others(685): Show c.743-2750_743-2749insGATTCGCACACGGGGTGTTCTTGGTGTG AGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTG TGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGGATTCGCACA CGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCAGACGGGGTGTTC TTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAG AATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTG GATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACA CGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCAGACGGGGTGTTC TTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAG AATGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATT CGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGG GTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGG TGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATG TGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
FAM210A_chr18_13658347_13731558	13675876	C C	CCTGAGCC others(661): Show CCTGAGCCCCGACTTCATTTCCAGTTTCCTGATTATTAACATTCCTGAGC CCTGGCTTCTTTTTTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCG ACTTCATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCGACTTATT TCCAGTTTCCTGATTATTAACATTCCTGAGCCGTGACTTCTTTATTTCCA GTTTCCTGATTATTAACATTCCTGAGCCCCGGCTTCTTTATTTCCTGTTT CCTGATTATTAACATTCCTGAGCCCTGGCTTCTTTATTTCCTGTTTCCTG ATTATTAACATTCCTGAGACCCGACTTCATTTCCAGTTTCCTGATTATTA ACATTCCTGAGCCCTGGCTTCTTGATTTCCAGTTTCCTGATTATTAACAT TCCTGAGCCCCGACTTCATTTCCAGTTTCCTGATTATTAACATTCCTGAG CCCTGGCTTCTTTATTTCCTGTTTCCTCATTATTAACATTCCTGAGCCCC GACTTCATTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCGACT TCATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCTGGCCTCTTTAT TTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCGACTTCATTTCCAGT TTCCTGATTATTAACATTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0292 a0001c0001t0005g0292	1	324	0.0031	668	c.474 others(685): Show c.474-3904_474-3903insAAATGTTAATAATCAGGAAACTGGAAAT GAAGTCGGGGCTCAGGAATGTTAATAATCAGGAAACTGGAAATAAAGAGG CCAGGGCTCAGGAATGTTAATAATCAGGAAACTGGAAATGAAGTCGGGGC TCAGGAATGTTAATAATCAGGAAACTGGAAATAATGAAGTCGGGGCTCAG GAATGTTAATAATGAGGAAACAGGAAATAAAGAAGCCAGGGCTCAGGAAT GTTAATAATCAGGAAACTGGAAATGAAGTCGGGGCTCAGGAATGTTAATA ATCAGGAAACTGGAAATCAAGAAGCCAGGGCTCAGGAATGTTAATAATCA GGAAACTGGAAATGAAGTCGGGTCTCAGGAATGTTAATAATCAGGAAACA GGAAATAAAGAAGCCAGGGCTCAGGAATGTTAATAATCAGGAAACAGGAA ATAAAGAAGCCGGGGCTCAGGAATGTTAATAATCAGGAAACTGGAAATAA AGAAGTCACGGCTCAGGAATGTTAATAATCAGGAAACTGGAAATAAGTCG GGGCTCAGGAATGTTAATAATCAGGAAACTGGAAATGAAGTCGGGGCTCA GGAATGTTAATAATCAGGAAACTGGAAAAAAAGAAGCCAGGGCTCAGGAA TGTTAATAATCAGGAAACTGGAAATGAAGTCGGGGCTCAG	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FOXP1_chr3_70949708_71588728	71435248	A A	AAGGAAGG others(661): Show AAGGAAGGAAGAGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACG GAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGA GGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACG GAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGA CGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGG GAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGAGGGAGGGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0037 a0001c0001t0060g0037	1	78	0.0128	668	c.-16 others(689): Show c.-168+58177_-168+58178insCCCTCCCTCCCTCCGTCCCTCCCT CCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCC GTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCC TCCCTCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCT CCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCTCTTCCTTCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GAS6_chr13_113815549_113869076	113817317	T T	TCCTCCCC others(661): Show TCCTCCCCCCACGGGACACATCCCCCTCCCCCCACGGGACACATACCCCC TCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACCCCCTC CCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCC CCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTC CAGGGAACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCA CGGGACACATCCCCCTCCCCCACGGGACACATCCCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACAC ATCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGACACATA CCCCCTCCCTCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATCCC CCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCC TCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTC CCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCC TCCAGGGGACCACATCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	58	0.0172	668	c.35 others(679): Show c.3546_*3547insGGGGATGTGGTCCCCTGGAGGGAGGGGGGATGTG CCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTC CCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGATGTGTCCCC TGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTG GAGGGAGGGGGTATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCCTGGG GGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGATGTGTCCCCTGGAGGG AGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAG GGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGG GGGATGTGTCCCGTGGGGGAGGGGGATGTGTCCCGTGGGGGGAGGGGGGA TGTGTCCCGAGGAGGGAGGGGGGATGTGTTCCCTGGAGGGAGGGGGGATG TGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTG TCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTC CCGTGGGGGGAGGAGGGATGTGTCCCGTGGGGGGAGGGGGTATGTGTCCC GTGGGGGGAGGGGGATGTGTCCCGTGGGGGGAGG	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		3231		chr13	TogoVar
GATC_chr12_120441444_120468749	120467991	A A	AGCTGAGG others(661): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTCTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATG TAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAG ATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCAC CACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGT TGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCC TCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCC TCAATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGT GGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCA CCTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGT CTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTAT AATCCCAGCTACTCAGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG03225.hp1 HG06807.hp1 others(2): Show HG02965.hp2 HG03225.hp1 HG06807.hp1 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0017 a0001c0001t0003g0056 a0001c0001t0003g0057	5	392	0.0128	668	c.80 others(679): Show c.8032_*8033insGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGC CGAGGTTGCAGTGAGCGGAGACAGTGACATCGCACTCCAGCCTGGGCAAC AAGAGCAAAACTCCGTCTCAAAAAAATAAAGAAAAATAAAAAAAACAAAT CCCTCGAACTTTTTCTCTCTTTTTTTTTTTGAGATGGAGTCTTGCTCTGT CACCAGGCTGGGATGTAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCC TCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACT ACAGGCGCGCGCCACCACGCCCAGCTCATTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGAT CCGCCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATC AGTAACTCTAAATCCTCAATATCCTGATCTGTAAAATCTGGTTAACCATA CAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCT GAGGCGGGCGGATCACCTCAGGTCGGGAATTCGAGACCAGCCTGACCAAC AAGGAGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTG GTGGCGCATGCCTATAATCCCAGCTACTCAGGAC	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4243		chr12	TogoVar
GATC_chr12_120441444_120468749	120467991	A A	AGCTGAGG others(661): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATG TAGTGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAG ATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCAC CACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGT TGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCC TCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCC TCAATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGT GGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCA CCTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGT CTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTAT AATCCCAGCTACTCAGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	388	0.0026	668	c.80 others(679): Show c.8032_*8033insGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGC CGAGGTTGCAGTGAGCGGAGACAGTGACATCGCACTCCAGCCTGGGCAAC AAGAGCAAAACTCCGTCTCAAAAAAATAAAGAAAAATAAAAAAAACAAAT CCCTCGAACTTTTTCTCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGT CACCAGGCTGGGATGTAGTGGCACCATCTCGGCTCACTGCAACCTCCGCC TCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACT ACAGGCGCGCGCCACCACGCCCAGCTCATTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGAT CCGCCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATC AGTAACTCTAAATCCTCAATATCCTGATCTGTAAAATCTGGTTAACCATA CAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCT GAGGCGGGCGGATCACCTCAGGTCGGGAATTCGAGACCAGCCTGACCAAC AAGGAGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTG GTGGCGCATGCCTATAATCCCAGCTACTCAGGAC	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4243		chr12	TogoVar
GATC_chr12_120441444_120468749	120467991	A A	AGCTGAGG others(661): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATG TAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAG ATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGGCAC CACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGT TGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCC TCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCC TCAATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGT GGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCA CCTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGT CTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTAT AATCCCAGCTACTCAGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	388	0.0026	668	c.80 others(679): Show c.8032_*8033insGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGC CGAGGTTGCAGTGAGCGGAGACAGTGACATCGCACTCCAGCCTGGGCAAC AAGAGCAAAACTCCGTCTCAAAAAAATAAAGAAAAATAAAAAAAACAAAT CCCTCGAACTTTTTCTCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGT CACCAGGCTGGGATGTAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCC TCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACT ACAGGCGCGCGGCACCACGCCCAGCTCATTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGAT CCGCCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATC AGTAACTCTAAATCCTCAATATCCTGATCTGTAAAATCTGGTTAACCATA CAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCT GAGGCGGGCGGATCACCTCAGGTCGGGAATTCGAGACCAGCCTGACCAAC AAGGAGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTG GTGGCGCATGCCTATAATCCCAGCTACTCAGGAC	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4243		chr12	TogoVar
GATC_chr12_120441444_120468749	120467991	A A	AGCTGAGG others(661): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGCAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATG TAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAG ATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCAC CACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGT TGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCC TCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCC TCAATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGT GGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCA CCTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGT CTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTAT AATCCCAGCTACTCAGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0131 a0001c0001t0009g0131	1	388	0.0026	668	c.80 others(679): Show c.8032_*8033insGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGC CGAGGTTGCAGTGAGCGGAGACAGTGACATCGCACTCCAGCCTGGGCAAC AAGAGCAAAACTCCGTCTCAAAAAAATAAAGCAAAATAAAAAAAACAAAT CCCTCGAACTTTTTCTCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGT CACCAGGCTGGGATGTAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCC TCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACT ACAGGCGCGCGCCACCACGCCCAGCTCATTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGAT CCGCCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATC AGTAACTCTAAATCCTCAATATCCTGATCTGTAAAATCTGGTTAACCATA CAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCT GAGGCGGGCGGATCACCTCAGGTCGGGAATTCGAGACCAGCCTGACCAAC AAGGAGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTG GTGGCGCATGCCTATAATCCCAGCTACTCAGGAC	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4243		chr12	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(661): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATAAATATATATATTTATATATAAA TATATATATAAATATATATATTTATATATAAATATATATATTTATATATA TATTTATATATAAATATATATATTTATATATAAATATATATATTTATATT TACAAATATATATATTTATATATATATTTATATTTATATATATTTATATT TATATATATATATATAAATATATATTTATGTATATTTATATATAAATATA AATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0143 a0001c0001t0030g0143	1	95	0.0105	668	c.-97 others(685): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATAAATATATATATTTAT ATATAAATATATATATAAATATATATATTTATATATAAATATATATATTT ATATATATATTTATATATAAATATATATATTTATATATAAATATATATAT TTATATTTACAAATATATATATTTATATATATATTTATATTTATATATAT TTATATTTATATATATATATATAAATATATATTTATGTATATTTATATAT AAATATAAATATATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
ISOC2_chr19_55447985_55466642	55449121	G G	GACCACAC others(661): Show GACCACACACCACACACACCACACACATACACCACACATGCACCACACAC ACAACACACACACCACACACACCACACACACACCACACATACACCACACA CCTCACACACATCACACAGCCCACACACCACACACTGCACACACCGCACA CACACACCAACATACCACACACCAGAGACACACACGACACACCACACACA GACCACACACACCACACACACCACACACACACCCCACACACCACAAACAC CCCACACACTCCACACACTGCACACACCGCACACGCCGCACATGCCACAC ACACCACACACCACACACACACCACACTGCACACACTGCACACACCACAC ACCCCACATACCACATTCACACACCACACACCACACATACCACATTCACA CACCACACATACCACACACATCACACACACCACACACACCCCAGACACTG CACACACTGTACACACCACACACACCCCACACACCACACACAGTGCACAA ACCACACACCACACACACACCACACCACACCCCCCACACATAACCATACA CAGACCACACATACACACACCACACACCACACATACCACACACACCAGAT ACACACACACCACATACCACACACACATACACACCACAAGCACACCACAC ACACACAAACCACAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG01516.hp1 others(11): Show HG00639.hp2 HG00642.hp1 HG01516.hp1 HG01517.hp2 HG02572.hp1 HG02965.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2 NA18948.hp1 NA18980.hp1 NA18982.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0004 a0001c0001t0004 a0001c0003t0004	a0001c0001t0004g0019 a0001c0001t0004g0041 a0001c0001t0004g0082 others(6): Show a0001c0001t0004g0019 a0001c0001t0004g0041 a0001c0001t0004g0082 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0163 a0001c0003t0004g0020 a0001c0003t0004g0047 a0001c0003t0004g0102	14	17	0.8235	668	c.41 others(679): Show c.4186_*4187insGTGTTTGTGGTTTGTGTGTGTGTGGTGTGCTTGT GGTGTGTATGTGTGTGTGGTATGTGGTGTGTGTGTATCTGGTGTGTGTGG TATGTGTGGTGTGTGGTGTGTGTATGTGTGGTCTGTGTATGGTTATGTGT GGGGGGTGTGGTGTGGTGTGTGTGTGGTGTGTGGTTTGTGCACTGTGTGT GGTGTGTGGGGTGTGTGTGGTGTGTACAGTGTGTGCAGTGTCTGGGGTGT GTGTGGTGTGTGTGATGTGTGTGGTATGTGTGGTGTGTGAATGTGGTATG TGTGGTGTGTGGTGTGTGAATGTGGTATGTGGGGTGTGTGGTGTGTGCAG TGTGTGCAGTGTGGTGTGTGTGTGGTGTGTGGTGTGTGTGGCATGTGCGG CGTGTGCGGTGTGTGCAGTGTGTGGAGTGTGTGGGGTGTTTGTGGTGTGT GGGGTGTGTGTGTGGTGTGTGTGGTGTGTGTGGTCTGTGTGTGGTGTGTC GTGTGTGTCTCTGGTGTGTGGTATGTTGGTGTGTGTGTGCGGTGTGTGCA GTGTGTGGTGTGTGGGCTGTGTGATGTGTGTGAGGTGTGTGGTGTATGTG TGGTGTGTGTGTGGTGTGTGTGGTGTGTGTGTTGTGTGTGTGGTGCATGT GTGGTGTATGTGTGTGGTGTGTGTGGTGTGTGGT	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		3863		chr19	TogoVar
ISOC2_chr19_55447985_55466642	55449121	G G	GACCACAC others(661): Show GACCACACACCACACACACCACACACATACACCACACATGCACCACACAC ACAACACACACACCACACACACCACACACACACCACACATACACCACACA CCTCACACACATCACACAGCCCACACACCACACACTGCACACACTGCACA CACACACCAACATACCACACACCAGAGACACACACGACACACCACACACA GACCACACACACCACACACACCACACACACACCCCACACACCACAAACAC CCCACACACTCCACACACTGCACACACCGCACACGCCGCACATGCCACAC ACACCACACACCACACACACACCACACTGCACACACTGCACACACCACAC ACCCCACATACCACATTCACACACCACACACCACACATACCACATTCACA CACCACACATACCACACACATCACACACACCACACACACCCCAGACACTG CACACACTGTACACACCACACACACCCCACACACCACACACAGTGCACAA ACCACACACCACACACACACCACACCACACCCCCCACACATAACCATACA CAGACCACACATACACACACCACACACCACACATACCACACACACCAGAT ACACACACACCACATACCACACACACATACACACCACAAGCACACCACAC ACACACAAACCACAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	4	0.2500	668	c.41 others(679): Show c.4186_*4187insGTGTTTGTGGTTTGTGTGTGTGTGGTGTGCTTGT GGTGTGTATGTGTGTGTGGTATGTGGTGTGTGTGTATCTGGTGTGTGTGG TATGTGTGGTGTGTGGTGTGTGTATGTGTGGTCTGTGTATGGTTATGTGT GGGGGGTGTGGTGTGGTGTGTGTGTGGTGTGTGGTTTGTGCACTGTGTGT GGTGTGTGGGGTGTGTGTGGTGTGTACAGTGTGTGCAGTGTCTGGGGTGT GTGTGGTGTGTGTGATGTGTGTGGTATGTGTGGTGTGTGAATGTGGTATG TGTGGTGTGTGGTGTGTGAATGTGGTATGTGGGGTGTGTGGTGTGTGCAG TGTGTGCAGTGTGGTGTGTGTGTGGTGTGTGGTGTGTGTGGCATGTGCGG CGTGTGCGGTGTGTGCAGTGTGTGGAGTGTGTGGGGTGTTTGTGGTGTGT GGGGTGTGTGTGTGGTGTGTGTGGTGTGTGTGGTCTGTGTGTGGTGTGTC GTGTGTGTCTCTGGTGTGTGGTATGTTGGTGTGTGTGTGCAGTGTGTGCA GTGTGTGGTGTGTGGGCTGTGTGATGTGTGTGAGGTGTGTGGTGTATGTG TGGTGTGTGTGTGGTGTGTGTGGTGTGTGTGTTGTGTGTGTGGTGCATGT GTGGTGTATGTGTGTGGTGTGTGTGGTGTGTGGT	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		3863		chr19	TogoVar
ISOC2_chr19_55447985_55466642	55449121	G G	GACCACAC others(661): Show GACCACACACCACACACACCACACACATACACCACACATGCACCACACAC ACACCACACACACCACACACACCACACACACACCACACATACACCACACA CCTCACACACATCACACAGCCCACACACCACACACTGCACACACCGCACA CACACACCAACATACCACACACCAGAGACACACACGACACACCACACACA GACCACACACACCACACACACCACACACACACCCCACACACCACAAACAC CCCACACACTCCACACACTGCACACACCGCACACGCCGCACATGCCACAC ACACCACACACCACACACACACCACACTGCACACACTGCACACACCACAC ACCCCACATACCACATTCACACACCACACACCACACATACCACATTCACA CACCACACATACCACACACATCACACACACCACACACACCCCAGACACTG CACACACTGTACACACCACACACACCCCACACACCACACACAGTGCACAA ACCACACACCACACACACACCACACCACACCCCCCACACATAACCATACA CAGACCACACATACACACACCACACACCACACATACCACACACACCAGAT ACACACACACCACATACCACACACACATACACACCACAAGCACACCACAC ACACACAAACCACAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG02630.hp2 others(14): Show HG01243.hp1 HG02451.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA19043.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0009 a0001c0001 a0001c0003 a0003c0009	a0001c0001t0004 a0001c0001t0010 a0001c0003t0006 others(3): Show a0001c0001t0004 a0001c0001t0010 a0001c0003t0006 a0001c0003t0007 a0001c0003t0012 a0003c0009t0004	a0001c0001t0004g0118 a0001c0001t0010g0074 a0001c0003t0006g0014 others(10): Show a0001c0001t0004g0118 a0001c0001t0010g0074 a0001c0003t0006g0014 a0001c0003t0006g0042 a0001c0003t0006g0109 a0001c0003t0006g0127 a0001c0003t0006g0128 a0001c0003t0006g0129 a0001c0003t0006g0130 a0001c0003t0007g0057 a0001c0003t0007g0058 a0001c0003t0012g0083 a0003c0009t0004g0123	17	20	0.8500	668	c.41 others(679): Show c.4186_*4187insGTGTTTGTGGTTTGTGTGTGTGTGGTGTGCTTGT GGTGTGTATGTGTGTGTGGTATGTGGTGTGTGTGTATCTGGTGTGTGTGG TATGTGTGGTGTGTGGTGTGTGTATGTGTGGTCTGTGTATGGTTATGTGT GGGGGGTGTGGTGTGGTGTGTGTGTGGTGTGTGGTTTGTGCACTGTGTGT GGTGTGTGGGGTGTGTGTGGTGTGTACAGTGTGTGCAGTGTCTGGGGTGT GTGTGGTGTGTGTGATGTGTGTGGTATGTGTGGTGTGTGAATGTGGTATG TGTGGTGTGTGGTGTGTGAATGTGGTATGTGGGGTGTGTGGTGTGTGCAG TGTGTGCAGTGTGGTGTGTGTGTGGTGTGTGGTGTGTGTGGCATGTGCGG CGTGTGCGGTGTGTGCAGTGTGTGGAGTGTGTGGGGTGTTTGTGGTGTGT GGGGTGTGTGTGTGGTGTGTGTGGTGTGTGTGGTCTGTGTGTGGTGTGTC GTGTGTGTCTCTGGTGTGTGGTATGTTGGTGTGTGTGTGCGGTGTGTGCA GTGTGTGGTGTGTGGGCTGTGTGATGTGTGTGAGGTGTGTGGTGTATGTG TGGTGTGTGTGTGGTGTGTGTGGTGTGTGTGGTGTGTGTGTGGTGCATGT GTGGTGTATGTGTGTGGTGTGTGTGGTGTGTGGT	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		3863		chr19	TogoVar
ISOC2_chr19_55447985_55466642	55449121	G G	GACCACAC others(661): Show GACCACACACCACACACACCACACACATACACCACACATGCACCACACAC ACACCACACACACCACACACACCACACACACACCACACATACACCACACA CCTCACACACATCACACAGCCCACACACCACACACTGCACACACCGCACA CACACACCAACATACCACACACCAGAGACACACACGACACACCACACACA GACCACACAGACCACACACACCACACACACACCCCACACACCACAAACAC CCCACACACTCCACACACTGCACACACCGCACACGCCGCACATGCCACAC ACACCACACACCACACACACACCACACTGCACACACTGCACACACCACAC ACCCCACATACCACATTCACACACCACACACCACACATACCACATTCACA CACCACACATACCACACACATCACACACACCACACACACCCCAGACACTG CACACACTGTACACACCACACACACCCCACACACCACACACAGTGCACAA ACCACACACCACACACACACCACACCACACCCCCCACACATAACCATACA CAGACCACACATACACACACCACACACCACACATACCACACACACCAGAT ACACACACACCACATACCACACACACATACACACCACAAGCACACCACAC ACACACAAACCACAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0060 a0001c0003t0007g0060	1	4	0.2500	668	c.41 others(679): Show c.4186_*4187insGTGTTTGTGGTTTGTGTGTGTGTGGTGTGCTTGT GGTGTGTATGTGTGTGTGGTATGTGGTGTGTGTGTATCTGGTGTGTGTGG TATGTGTGGTGTGTGGTGTGTGTATGTGTGGTCTGTGTATGGTTATGTGT GGGGGGTGTGGTGTGGTGTGTGTGTGGTGTGTGGTTTGTGCACTGTGTGT GGTGTGTGGGGTGTGTGTGGTGTGTACAGTGTGTGCAGTGTCTGGGGTGT GTGTGGTGTGTGTGATGTGTGTGGTATGTGTGGTGTGTGAATGTGGTATG TGTGGTGTGTGGTGTGTGAATGTGGTATGTGGGGTGTGTGGTGTGTGCAG TGTGTGCAGTGTGGTGTGTGTGTGGTGTGTGGTGTGTGTGGCATGTGCGG CGTGTGCGGTGTGTGCAGTGTGTGGAGTGTGTGGGGTGTTTGTGGTGTGT GGGGTGTGTGTGTGGTGTGTGTGGTCTGTGTGGTCTGTGTGTGGTGTGTC GTGTGTGTCTCTGGTGTGTGGTATGTTGGTGTGTGTGTGCGGTGTGTGCA GTGTGTGGTGTGTGGGCTGTGTGATGTGTGTGAGGTGTGTGGTGTATGTG TGGTGTGTGTGTGGTGTGTGTGGTGTGTGTGGTGTGTGTGTGGTGCATGT GTGGTGTATGTGTGTGGTGTGTGTGGTGTGTGGT	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		3863		chr19	TogoVar
KCNQ2_chr20_63395208_63477655	63442902	C C	CCACCACC others(661): Show CCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACC ATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCAT CACCATCACCATCACCACCACCATCACATCAACACCATGACCACCATCAC CACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCA TCACTATCACCACCATCACCATCACCACCACCACCACCACCATCACCATC ACCACCATCACCACCATCACCATCACCACCACCACCACCATCACCACCAT CACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCA CCATTACCACCACCATCACCATCACCATCACCACCACCACCACCACCACC ATCACCATCACCACCACCATCACCATTATCACCACCACCATCACCACCAT CACCACCACCACCATCACCATCACCACCACCATCACCATCATCACCATCA CCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACC ATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCAC CATCACCATCACCACCACCACCACCACCACCATCATCACCACCACCATCA CCATTATCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp2 NA18906.hp1 HG02922.hp1 HG03130.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0021 a0001c0002 a0001c0021	a0001c0002t0034 a0001c0021t0049 a0001c0002t0034 a0001c0021t0049	a0001c0002t0034g0001 a0001c0021t0049g0025 a0001c0002t0034g0001 a0001c0021t0049g0025	3	294	0.0102	668	c.691 others(683): Show c.691-372_691-371insATGGTGGTGGTGATAATGGTGATGGTGGTG GTGATGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGT GGTAATGGTGGTGGTAATGGTGATGGTGGTGGTGGTGATGGTGATGGTGG TGATGGTGATGGTAATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATG ATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGAT GGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGG TGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTGGTGGTAATG GTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGAT GGTGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGGTGATGGTGATGG TGGTGGTGGTGGTGGTGATGGTGATGGTGGTGATAGTGATGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGATGGTTTTGGTGGTGGTGATGGTGGT CATGGTGTTGATGTGATGGTGGTGGTGATGGTGATGGTGATGGTGATGGT AATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGATGGTGATGGTGG TGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(661): Show GGAAGGGAGGTGGAGGGAGAAAAAGAGAGGAGGAGGAGGAAGGAAAGAAG GAGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAG GAGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGG AGAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGG AGGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAG TGAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAA GGAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGA GGAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGA GGGGAGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGG AGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAA GAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGG AGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAG AGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGG AAGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	5	0.2000	668	c.-46 others(679): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCTCCTC CTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTCCT CCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTCCT CCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCC CTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCCTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTC CCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTC TCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTC TCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCC CTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCC TTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCCT CATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCC TCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTC CTCCTCCTCTCTTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(661): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAA GGAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGA GGAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGA GGGGAGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGG AGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAA GAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGG AGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAG AGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGG AAGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	5	0.2000	668	c.-46 others(679): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCTCCTC CTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTCCT CCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTCCT CCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCC CTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCCTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTC CCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTC TCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTC TCTTCTTTTCTCCCACTTCTCCCTCCTCCCCCTTCACTTCCTCCTCCTCC CCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCC CTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCC TCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCC CTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCT CCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATA others(661): Show TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATCCATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATC CATATATATATATATCCATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0242 a0002c0002t0002g0242	1	207	0.0048	668	c.126 others(685): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATGGATATATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATGGATATATATATATATGGATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATGGATATATATATATATATATGGAT ATATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATATGGATATATATATATGGATATATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATGGATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATATGGATATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LHFPL3_chr7_104323603_104913561	104824299	T T	TATTATAT others(661): Show TATTATATATTATATATATATTATATTATATATTATATATAATTATATAT ATTTTATATATTATATATTATATATTATATATTATATATTATATATATTA TATATTATATATTATATATTATATATATTATATATTATATATACAATTAT ATATATTATATATATTATATATTATATAATATATTATATATATAATATAT ATTATATATTATATATTATATAATATATTATATATATAATATATTATATA TTATATATTATATAATATATTATATATTATATATATTATATATTATATAT TATATATTATATATATAATATATATTATATATTATATATTATATATATTA TATATATTATATATATTATATATAATATATATAATTGTATATATAATATA TAATATATAATATATATAATATATAATATATAATATATAATATATAATAT ATATAATATATAATATATTATATATAATATATAATATATAATATATATAA TATATTATATATAATATATAATATATAATATATATAATATATTATATATA ATATATAATATATAATATATATTATATATATAATATATTATATAATATAT TATATATATAATATATATTATATATTATATACAATATATTATATATTATA TACATTATATATTATATAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01257.hp2 HG01258.hp1 HG01074.hp2 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0071 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0071	3	63	0.0476	668	c.683 others(687): Show c.683-81879_683-81878insTATATATATATTATATTATATATTAT ATATAATTATATATATTTTATATATTATATATTATATATTATATATTATA TATTATATATATTATATATTATATATTATATATTATATATATTATATATT ATATATACAATTATATATATTATATATATTATATATTATATAATATATTA TATATATAATATATATTATATATTATATATTATATAATATATTATATATA TAATATATTATATATTATATATTATATAATATATTATATATTATATATAT TATATATTATATATTATATATTATATATATAATATATATTATATATTATA TATTATATATATTATATATATTATATATATTATATATAATATATATAATT GTATATATAATATATAATATATAATATATATAATATATAATATATAATAT ATAATATATAATATATATAATATATAATATATTATATATAATATATAATA TATAATATATATAATATATTATATATAATATATAATATATAATATATATA ATATATTATATATAATATATAATATATAATATATATTATATATATAATAT ATTATATAATATATTATATATATAATATATATTATATATTATATACAATA TATTATATATTATATACATTATATATTATATACATTATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LINGO2_chr9_27932617_29218601	28189380	G G	GAAGGAAG others(661): Show GAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGA AGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGAAG GAAGGGAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGA AGGAAGGGAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAG GAAGGGAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGG AGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAG GGAGGAAGAAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGA AGGAAGGGAGGGAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGAAGGAAG GGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGA AGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGAAAGGAAG GAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGA AGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAG GGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGGAGGAAGGAAGGAAGGA AGGAAGGGAGGGAGGAAGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0002 a0001c0001t0011g0002	1	61	0.0164	668	c.-36 others(689): Show c.-36+105827_-36+105828insTCTTCCTCCCTCCCTTCCTTCCTT CCTTCCTTCCTCCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCC TTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTC CCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCC TTTCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTC CCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCC TTCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTCCCTCCCTTCCTTCCTT CCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTTCTTCCTCCCTTCC TTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTCCCTC CCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTCC TTCCTTCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTTCCTT CCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTTCC TCCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTC CCTCCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LMLN_chr3_197955217_198048720	198014390	C C	CCTTCAGA others(661): Show CCTTCAGAGCCCCCTAACTAGTCTGACTTCTCTCCACCCTTCAGAGCCCC CTAACTAGTCTAACTTCTCTGTATCCTTCAGAGCCCCCTAACTAGTCTGA CTTCTCTCCACCCTTCAGAGCCCCCTAACTAGTCTGACTTCTCTCCACCC TTCAGAGTCCCCTTAACTAGTCTGACTTCTCTGTATCCTTCAGAGCCCCC TAACTACTCTGACTTCTCTCCACTCTTCAGAGCCCCCTAACTAGTCTGAC TTCTCTCCACCCTTCAGAGCCCCCTAACTAGTCTGACTTCTCTCCACCGT TCAGAGCCCGCTAACTAGTCTGACTTCTCTCCACCCTTCAGAGCCCCCTA ACTAGTCTGACTTCTCTCCACCCATCAGAGCCCCCTACCTAGTCTGACTT CTCTCCACCCATCAGAGCCCCCTAACTAGTCTGACTTCTCTCCACCCTTT AGAGCCCTCTAACTAGTCTGACTTCTCTCCACCCATCAGAGCCCCCTAAC TAGTCTAACTTCTCTGTATCCTTCAGAGCCCCCTAACTAGTCTGACTTCT CTCCACCCTTCAGAGCCCCCTAACTAGTCTGACTTCTCTCCACCCTTCAG AGTCCCCTTAACTAGTCTGACTTCTCTGTATCCTTCAGAGCCCCCTAACT ACTCTGACTTCTCTCCACT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19003.hp2 HG00423.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0122 a0001c0001t0003g0123	2	256	0.0078	668	c.132 others(687): Show c.1320-4803_1320-4802insAACTTCTCTGTATCCTTCAGAGCCCC CTAACTAGTCTGACTTCTCTCCACCCTTCAGAGCCCCCTAACTAGTCTGA CTTCTCTCCACCCTTCAGAGTCCCCTTAACTAGTCTGACTTCTCTGTATC CTTCAGAGCCCCCTAACTACTCTGACTTCTCTCCACTCTTCAGAGCCCCC TAACTAGTCTGACTTCTCTCCACCCTTCAGAGCCCCCTAACTAGTCTGAC TTCTCTCCACCGTTCAGAGCCCGCTAACTAGTCTGACTTCTCTCCACCCT TCAGAGCCCCCTAACTAGTCTGACTTCTCTCCACCCATCAGAGCCCCCTA CCTAGTCTGACTTCTCTCCACCCATCAGAGCCCCCTAACTAGTCTGACTT CTCTCCACCCTTTAGAGCCCTCTAACTAGTCTGACTTCTCTCCACCCATC AGAGCCCCCTAACTAGTCTAACTTCTCTGTATCCTTCAGAGCCCCCTAAC TAGTCTGACTTCTCTCCACCCTTCAGAGCCCCCTAACTAGTCTGACTTCT CTCCACCCTTCAGAGTCCCCTTAACTAGTCTGACTTCTCTGTATCCTTCA GAGCCCCCTAACTACTCTGACTTCTCTCCACTCTTCAGAGCCCCCTAACT AGTCTGACTTCTCTCCACCCTTCAGAGCCCCCTAACTAGTCT	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(661): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCATGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGAACACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA AATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAG TACCTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCC CAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCC CAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02486.hp2 others(5): Show HG01891.hp1 HG01891.hp2 HG02486.hp2 HG02897.hp2 HG03453.hp1 HG03579.hp1 HG06807.hp1 NA18906.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0230 a0003c0004t0007g0288 a0003c0004t0007g0290 others(5): Show a0003c0004t0007g0230 a0003c0004t0007g0288 a0003c0004t0007g0290 a0003c0004t0007g0308 a0003c0004t0007g0344 a0003c0004t0007g0407 a0003c0004t0007g0408 a0003c0004t0007g0409	8	201	0.0398	668	c.56 others(679): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAA CTGGATATAACTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCT CTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGCT CCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTAG TAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGACCT CGTGTTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAG CCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGGCCGGGC GTGGTGGCTCATGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTG GATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGTGAA ACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGGT GCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(661): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA AATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAA AGTACCTTCTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCC CAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCC CAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02897.hp1 HG02922.hp2 others(3): Show HG02109.hp2 HG02897.hp1 HG02922.hp2 HG03225.hp1 HG03471.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0208 a0002c0002t0002g0220 a0002c0002t0002g0314 others(3): Show a0002c0002t0002g0208 a0002c0002t0002g0220 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0343 a0002c0002t0002g0412	6	199	0.0302	668	c.56 others(679): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAACT GGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCT CTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGCT CCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTAG TAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGACCT CGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAG CCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGGCCGGGC GTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTG GATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGTGAA ACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGGT GCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(661): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA AATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAGT ACCTTCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCC CAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCC CAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0351 a0002c0002t0001g0351	1	194	0.0052	668	c.56 others(679): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTA ACTGGATATAACTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCT CTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGCT CCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTAG TAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGACCT CGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAG CCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGGCCGGGC GTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTG GATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGTGAA ACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGGT GCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(661): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAG ACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAAT ATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCTG AGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCTC AAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAA AGTACCTTCTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCC CAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCC CAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0170 a0002c0003t0003g0170	1	194	0.0052	668	c.56 others(679): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAACT GGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGC TCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGC TCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCACGCTCGGCTAATATTTTTGTATTTTTA GTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGACC TCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGA GCCACTGCGCCTGGCGAGAACATTTTTTTTTAACAGTTAATTGGCCGGGC GTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTG GATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGTGAA ACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGGT GCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACGT others(661): Show TGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCC CCACTGCCACGTCCCCACTGCCACGTCCCCTCATCCCGTCCCCACTGCCA CGTCCCCTCGCCCCGTCCCCCACTGCCACGTCCCCTCGCCCTGTCCCCAC TGCCACGTCCCCTCGCCCCGTCCCCCACTGCCACGTCCCCTCATCCCGTC CCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCC CGTCCCCACTGCCACGTCCCCTGGCCCCATCCCCCACTGCCACGTCCCCT CGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTC CCCTGGCCCCATCCCCCACTGCCACGTCCCCTCATCCCGTCCCCACTGCC ACGTCCCCTGGCCCCATCCCCCACTGCCACGTCCCCTCATCCCGTCCCCA CTGCCACGTCCCCTGGCCCCATCCCCCACTGCCACGTCCCCTCATCCCGT CCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCC CCGTCCCCACTGCCACAACCCCTCATCCCGTCCCCTACTGCCACATCCCA CCACCACGTCCACACTGCCATGTCCCCTCGCCCCATCCCCCTGCCACGTC CACTTACCCCATACCCACC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	10	0.1000	668	c.180 others(687): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGTGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTAGGGGACGGGATGAGGGGTTGTGGCAGTGGGGACGGGGCGAGG GGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGAT GAGGGGACGTGGCAGTGGGGGATGGGGCCAGGGGACGTGGCAGTGGGGAC GGGATGAGGGGACGTGGCAGTGGGGGATGGGGCCAGGGGACGTGGCAGTG GGGACGGGATGAGGGGACGTGGCAGTGGGGGATGGGGCCAGGGGACGTGG CAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGAC GTGGCAGTGGGGGATGGGGCCAGGGGACGTGGCAGTGGGGACGGGGCGAG GGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGA TGAGGGGACGTGGCAGTGGGGGACGGGGCGAGGGGACGTGGCAGTGGGGA CAGGGCGAGGGGACGTGGCAGTGGGGGACGGGGCGAGGGGACGTGGCAGT GGGGACGGGATGAGGGGACGTGGCAGTGGGGACGTGGCAGTGGGGACGGG GCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1333885	A A	ATCCCATG others(661): Show ATCCCATGCCTACCGTGCTCACCCCCATGCCCACCCCATGCCCACCATGT GCCCACCCCTGCACCCACCCCCATGCCCGTGTGCCCACCCCTGCACCCAT CCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGCCTACCGTGCTCA CCCCCATGCCCACCCCATGCCCACCATGTGCCCACCCCTGCACCCACCCC CATGCCCGTGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGCTCACC CCTGCACCCATCCCATGCCTACCGTGCTCACCCCCATGCCCACCCCATGC CCACCATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGCCCACCCC TGCACCCATCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGCCTA CCGTGCTCACCCCCATGCCCACCCCATGCCCACCATGTGCCCACCCCTGC ACCCACCCCCATGCCCGTGTGCCCACCCCTGCACCCACCCCCATGCCCGT GTGCTCACCCCTGCACCCATCCCATGCCTACCGTGCTCACCCCCATGCCC ACCCCATGCCCACCATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGT GCCCACCCCTGCACCCATCCCATGCCCGTGTGCTCACCCCTGCACCCATC CCATGCCTACCGTGCTCAC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	369	0.0027	668	c.765 others(685): Show c.765+1020_765+1021insTCCCATGCCTACCGTGCTCACCCCCATG CCCACCCCATGCCCACCATGTGCCCACCCCTGCACCCACCCCCATGCCCG TGTGCCCACCCCTGCACCCATCCCATGCCCGTGTGCTCACCCCTGCACCC ATCCCATGCCTACCGTGCTCACCCCCATGCCCACCCCATGCCCACCATGT GCCCACCCCTGCACCCACCCCCATGCCCGTGTGCCCACCCCTGCACCCAC CCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGCCTACCGTGCTC ACCCCCATGCCCACCCCATGCCCACCATGTGCCCACCCCTGCACCCACCC CCATGCCCGTGTGCCCACCCCTGCACCCATCCCATGCCCGTGTGCTCACC CCTGCACCCATCCCATGCCTACCGTGCTCACCCCCATGCCCACCCCATGC CCACCATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGCCCACCCC TGCACCCACCCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGCCT ACCGTGCTCACCCCCATGCCCACCCCATGCCCACCATGTGCCCACCCCTG CACCCACCCCCATGCCCGTGTGCCCACCCCTGCACCCATCCCATGCCCGT GTGCTCACCCCTGCACCCATCCCATGCCTACCGTGCTCAC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8			chr4	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(661): Show TCTGCTCTCCCCTCCCCCTCCCCCTCCCTCCCCCCTCCCCCTCCCCCCCT CCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCACCCCTCTCTCCCC TCCCTCTCCCCTCCCCCTCTTCCCCTCCCCTCCTCCTCTTCCTCCCCTCC TCTCTTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCCTCCGTCC CCTCCCCTCCCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCTCCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCTCCCCTCCCCTCCTCCCC CTCCCCTCCTCCCTCCCCTCCTCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCCTCCTCCCCTCCTCCCTC CTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCTCCCTCCTCCCCTCCTCCC TCCCCTCCCCTCCCCTCCTCCCCTCCTCCCTCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCCCCTCCTCCCTCCCCTCCCCTCCCCTCTCCCCTCCCTC CCCTCTCCCTCTCCCCACTCCTCCCTCCCTCCCCTCCCCCTCCCTCCCTC CCTCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCCCTCTCCCTCCTCCCCT CCCCTCCATCCCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0036 a0002c0008t0001g0036	1	4	0.2500	668	c.114 others(687): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCCTCCCCCTCCCT CCCCCCTCCCCCTCCCCCCCTCCTCCCCTCCCCTCTCCCCTCCCCTCTCC CCTCCCCACCCCTCTCTCCCCTCCCTCTCCCCTCCCCCTCTTCCCCTCCC CTCCTCCTCTTCCTCCCCTCCTCTCTTCCCTCCTCCCCTCCCCTCTCCCC TCCCTCCTCCCCCCTCCGTCCCCTCCCCTCCCCCCTCCCCTCCTCCCCTC CCCTCCCCTCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCCTCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCTCCCCTCCTCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCCTCCTCCCCTCCTCCCTCCTCCCCTCCTCCCCTCCCCCTCCTCCCCT CCTCCCTCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCC CTCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCCTCCTCCCTCCCCTC CCCTCCCCTCTCCCCTCCCTCCCCTCTCCCTCTCCCCACTCCTCCCTCCC TCCCCTCCCCCTCCCTCCCTCCCTCCCTCCCCTCCTCCCTCCCCCCTCCC CTCCCCTCTCCCTCCTCCCCTCCCCTCCATCCCCTCCTCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTTP_chr4_99569824_99628997	99589007	A A	ATATATAT others(661): Show ATATATATGTTCATATATATATTCATATATATGTTCATATATATTCATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCAT ATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTC ATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGT TCATATATATATGTTCATATATATGTTCATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATAT ATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATAT ATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCAT ATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTC ATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGT TCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATGTTCATATATATATGTTCATATAT ATGTTCATATATATATGTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	164	0.0061	668	c.394 others(683): Show c.394-636_394-635insTATATATGTTCATATATATATTCATATATA TGTTCATATATATTCATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATGTTCATATATATA TGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATA TATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATA TATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATA TATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCA TATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTT CATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATG TTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATATA TGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATA TATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATA TATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCA TATATATATGTTCATATATATGTTCATATATATATGTT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(661): Show ACATATATATGTTCATATATATACACACATATATATATGTTCATATATAT ACACACATATATATGTTCATATATATACACACATATATATGTTCATATAT ATATTCATATATATATGTTCATGTATATTCATATATATATGTTCATATAT ATATTCATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0018	2	166	0.0120	668	c.394 others(683): Show c.394-586_394-585insCACACATATATATATGTTCATATATATACA CACATATATATGTTCATATATATACACACATATATATGTTCATATATATA TTCATATATATATGTTCATGTATATTCATATATATATGTTCATATATATA TTCATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATGTTCATATATATA	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(661): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0282 a0002c0002t0002g0282	1	165	0.0061	668	c.394 others(683): Show c.394-573_394-572insGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATGTTCATATATATATTCATATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MYRIP_chr3_39804609_40265321	40084327	A A	AGATAATA others(661): Show AGATAATACACATCTATGTATTATCTATCGGTAGATAATACACATCTATG TATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGAT AATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATT ATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATA CACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCT ATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACA TCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCG ATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTA TGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAG ATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTA TTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAA TACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTAT CTATCGATAGATAATACACATCTATGTATTATCTATCGATAATACACATC TATGTATTATCTATCGATC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	161	0.0062	668	c.332 others(687): Show c.332+40079_332+40080insCTATCGGTAGATAATACACATCTATG TATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGAT AATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATT ATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATA CACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCT ATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACA TCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCG ATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTA TGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAG ATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTA TTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAA TACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTAT CTATCGATAGATAATACACATCTATGTATTATCTATCGATAATACACATC TATGTATTATCTATCGATCGATAATACACATCTATGTATTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40203779	T T	TTATATAG others(661): Show TTATATAGTATATATGTGATATATTTATATATAAATATATGTGATATATT TATATATAAATATTTATATTTTATATATTTATATATTTTATATATTTATA TATAAATATTTATATTTTATATATTTATATATTTTATATATTTATATATA AATATTTATATTTTATATATTTATATATTTTATGATTTTATAAAATATAT AAATTATATAATTTATAAATTATATAATTTATATATTATATATTATATGT TTATATTAAATATTATATATTATATATTATATATTATATATTTATATTAA ATATTATATATTTATATATTATATATAATATATTTATATTAAATATTATA TTTATATATTATATATATTTATATTAAATATATATTTATATATTATTTAT ATTTATATTAAATATTATATATTTATATATTATATATATTTATATTAAAT ATTATATATTTATATATTATATATTTATATTAAATATTATATATTTATAT ATTATATATATTTATATTAAATATTATATATTTATATATTATATATATTT ATATTAAATATTATATATTTATATATTATATATATTTATATTAAATATTA TATATTTATATATTATATATATTTATATTGAATATTATATATTTATATAT TATATAAATATTATATATG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0037 a0003c0007t0001g0037	1	64	0.0156	668	c.166 others(687): Show c.1666-6072_1666-6071insATAGTATATATGTGATATATTTATAT ATAAATATATGTGATATATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATAT ATTTTATATATTTATATATAAATATTTATATTTTATATATTTATATATTT TATGATTTTATAAAATATATAAATTATATAATTTATAAATTATATAATTT ATATATTATATATTATATGTTTATATTAAATATTATATATTATATATTAT ATATTATATATTTATATTAAATATTATATATTTATATATTATATATAATA TATTTATATTAAATATTATATTTATATATTATATATATTTATATTAAATA TATATTTATATATTATTTATATTTATATTAAATATTATATATTTATATAT TATATATATTTATATTAAATATTATATATTTATATATTATATATTTATAT TAAATATTATATATTTATATATTATATATATTTATATTAAATATTATATA TTTATATATTATATATATTTATATTAAATATTATATATTTATATATTATA TATATTTATATTAAATATTATATATTTATATATTATATATATTTATATTG AATATTATATATTTATATATTATATAAATATTATATATGTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(661): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTGTACAGCATGTATACTGTATGTATGTATACTGTATGTATGTA TACTGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATA CACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACA GTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGT ATGTATACTGTGTATGCAGTATGTATACAGTATACATACTGCATGCAGTA TGTATACTGTATACATACTGCATGCAGTATGTATACTGTATATATACACT ATACAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTATA TATACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTA TATATACACACAGTATGTATACTGTATATATACACACAGTATGTATACTG TATATATACACACAGTATGTATACTGTATATATACACACAGTATGTATAC TGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0344 a0001c0001t0002g0344	1	118	0.0085	668	c.-75 others(687): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAG TATACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTAT ATATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCA TGCAGTATGTATACTGTATACATACTGCATACACAGTATACATACTGTGT ATATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTAT ATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACATACAGTATACATAC ATACAGTATACATACATACAGTATACATGCTGTACACAGTATACATGCTG TACACAGTATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136535783	A A	AGGGGAGC others(661): Show AGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGG AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGG GTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGAGGGGGGATCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTCGG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0011 a0011	a0011c0057 a0011c0057	a0011c0057t0029 a0011c0057t0029	a0011c0057t0029g0178 a0011c0057t0029g0178	1	237	0.0042	668	c.140 others(685): Show c.140+8240_140+8241insCCGACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGATCCCCCCTCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCCCACCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGC ACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTG CACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCC TGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACC CTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
PARP10_chr8_143972158_143991460	143981666	G G	GTGGTGAT others(661): Show GTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGA TGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGACGAC AGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGT GAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTG GTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGGTGG TGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGT GAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAA GGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTG ATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGG TGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGACGACAGTGAG TGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGT GGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATG GTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGA CAGTGAGTGGTGAAGGTGA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0219 a0002c0002t0002g0219	1	303	0.0033	668	c.255 others(687): Show c.2556+1265_2556+1266insTCACCTTCACCACTCACTGTCGTCAC CACCATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCACC ACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCA CCACTCACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCACTG TCGTCACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCAT CATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACC ACCTTCACCACTCACTGTCGTCACCACCATCATCACCATCACCTTCACCA CTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCG TCACCACCATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCAT CACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACC TTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTC ACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCACTGTCGTCA CCACCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCAC CATCACCTTCACCACTCACTGTCGTCACCACCATCATCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar

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