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
SPEF2_chr5_35612863_35819611	35708695	C C	CCATCACC others(884): Show CCATCACCACCATCATCACCTCTATCTCCACTACCACTACCAACACCACC ATCACTACCACCATCCCCACCATCATCACCTCTATCTCCACTACCACTAC CAACACCACCATCACTACCACCATCCCCACCACAGCCATCACCACCTCCA CCACCATCACCACCACTACCACCAGCACCATCACCACCTCTACCTCCATC ACCGTCACCACCTCTACCTCCATCACCATCACCACCATCATCACCTCTAT CTCCACTACCACTACCAACACCACCATCACTACCACCATCCCCACCACAG CCATCACCACCTCCGCCACCATCACCACCACTACCACCAGCACCATCACC ACCTCTACCTCCATCACCATCACCACCTCTATCTCCATCACCATCACAAC CTCTACCTCCACCAGCATCACCACCATCATCACCTCTATCTCCACTACCA CCATCACTACCACCATCCCCACCATAGCCATCACCACCTCCACTACCATC ACCACCTCTACCTCCACCACCACTACCACCAGCACCATCACCACCTCTAC CTCCACCACCATCACCACCATCATCACCTGTATCTCCACTACCACCATCC CCACCACAGCCATCACCACCTCCACCACCATCACCAGCTCTTCCTCCACC ACCACTACCAGCAGCACCATTACCACCATCACTACCCCTACCTCTGCCAC CATCATCACCATCATCACCACCACCACCTCCACCACCCCCATCACCACCA CCACCACCACCATCAGTACCACCATCCCCACCACAGCCATCACCACTTCT ACCTGCACCACCACCACCATCACCACCTCCACCACAGTCAACACCACTGT TATTAATACCACCACCACCATCACCATCACCACTACCACCAT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0038 a0038	a0038c0052 a0038c0052	a0038c0052t0001 a0038c0052t0001	a0038c0052t0001g0227 a0038c0052t0001g0227	1	94	0.0106	891	c.266 others(908): Show c.2666-242_2666-241insTCATCACCTCTATCTCCACTACCACTAC CAACACCACCATCACTACCACCATCCCCACCATCATCACCTCTATCTCCA CTACCACTACCAACACCACCATCACTACCACCATCCCCACCACAGCCATC ACCACCTCCACCACCATCACCACCACTACCACCAGCACCATCACCACCTC TACCTCCATCACCGTCACCACCTCTACCTCCATCACCATCACCACCATCA TCACCTCTATCTCCACTACCACTACCAACACCACCATCACTACCACCATC CCCACCACAGCCATCACCACCTCCGCCACCATCACCACCACTACCACCAG CACCATCACCACCTCTACCTCCATCACCATCACCACCTCTATCTCCATCA CCATCACAACCTCTACCTCCACCAGCATCACCACCATCATCACCTCTATC TCCACTACCACCATCACTACCACCATCCCCACCATAGCCATCACCACCTC CACTACCATCACCACCTCTACCTCCACCACCACTACCACCAGCACCATCA CCACCTCTACCTCCACCACCATCACCACCATCATCACCTGTATCTCCACT ACCACCATCCCCACCACAGCCATCACCACCTCCACCACCATCACCAGCTC TTCCTCCACCACCACTACCAGCAGCACCATTACCACCATCACTACCCCTA CCTCTGCCACCATCATCACCATCATCACCACCACCACCTCCACCACCCCC ATCACCACCACCACCACCACCATCAGTACCACCATCCCCACCACAGCCAT CACCACTTCTACCTGCACCACCACCACCATCACCACCTCCACCACAGTCA ACACCACTGTTATTAATACCACCACCACCATCACCATCACCACTACCACC ATCATCACCACCA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	18/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35708695	C C	CCATCACC others(884): Show CCATCACCACCATCATCACCTCTATCTCCACTACCACTACCAACACCACC ATCACTACCACCATCCCCACCATCATCACCTCTATCTCCACTACCACTAC CAACACCACCATCACTACCACCATCCCCACCACAGCCATCACCACCTCCA CCACCATCACCACCACTACCACCAGCACCATCACCACCTCTACCTCCATC ACCGTCACCACCTCTACCTCCATCACCATCACCACCATCATCACCTCTAT CTCCACTACCACTACCAACACCACCATCACTACCACCATCCCCACCACAG CCATCACCACCTCCGCCACCATCACCACCACTACCACCAGCACCATCACC ACCTCTACCTCCATCACCATCACCACCTCTATCTCCATCACCATCACAAC CTCTACCTCCACCAGCATCACCACCATCATCACCTCTATCTCCACTACCA CCATCACTACCACCATCCCCACCATAGCCATCACCACCTCCACTACCATC ACCACCTCTACCTCCACCACCACTACCACCAGCACCATCACCACCTCTAC CTCCACCACCATCACCACCATCATCACCTGTATCTCCACTACCACCATCC CCACCACAGCCATCACCACCTCCACCACCATCACCAGCTCTTCCTCCACC ACCACTACCAGCAGCACCATTACCACCATCACTACCCCTACCTCTGCCAC CATCATCACCATCATCACCACCACCACCTCCACCACCCCCATCACCACCA CCACCACCACCATCAGTACCACCATCCCCACCACAGCCATCACCACTTCT ACCTGCACCACCACCACCATCACCACCTCCACCACAGTCAGCACCACTGT TATTAATACCACCACCACCATCACCATCACCACTACCACCAT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18985.hp2 NA18984.hp2 NA18985.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0206 a0002c0001t0001g0207 a0002c0001t0001g0206 a0002c0001t0001g0207	2	95	0.0211	891	c.266 others(908): Show c.2666-242_2666-241insTCATCACCTCTATCTCCACTACCACTAC CAACACCACCATCACTACCACCATCCCCACCATCATCACCTCTATCTCCA CTACCACTACCAACACCACCATCACTACCACCATCCCCACCACAGCCATC ACCACCTCCACCACCATCACCACCACTACCACCAGCACCATCACCACCTC TACCTCCATCACCGTCACCACCTCTACCTCCATCACCATCACCACCATCA TCACCTCTATCTCCACTACCACTACCAACACCACCATCACTACCACCATC CCCACCACAGCCATCACCACCTCCGCCACCATCACCACCACTACCACCAG CACCATCACCACCTCTACCTCCATCACCATCACCACCTCTATCTCCATCA CCATCACAACCTCTACCTCCACCAGCATCACCACCATCATCACCTCTATC TCCACTACCACCATCACTACCACCATCCCCACCATAGCCATCACCACCTC CACTACCATCACCACCTCTACCTCCACCACCACTACCACCAGCACCATCA CCACCTCTACCTCCACCACCATCACCACCATCATCACCTGTATCTCCACT ACCACCATCCCCACCACAGCCATCACCACCTCCACCACCATCACCAGCTC TTCCTCCACCACCACTACCAGCAGCACCATTACCACCATCACTACCCCTA CCTCTGCCACCATCATCACCATCATCACCACCACCACCTCCACCACCCCC ATCACCACCACCACCACCACCATCAGTACCACCATCCCCACCACAGCCAT CACCACTTCTACCTGCACCACCACCACCATCACCACCTCCACCACAGTCA GCACCACTGTTATTAATACCACCACCACCATCACCATCACCACTACCACC ATCATCACCACCA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	18/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SYNDIG1_chr20_24464629_24671616	24530039	A A	AATACCCC others(884): Show AATACCCCTGGTGATGGTTTCAGTGGTGGAGATGATGACAGTGATGGTGG TGGTGATGGTAGTACTCCCGGTGGTGGTGTCAGTGGTGGGGATGGTGATG GTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGT GTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGATGGTAGTATTCC CGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTAGTA TTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGACAGT AGTACTCCCAGTGATGGTGTCATGGTGGAGATGGTGATGGTGGTGGTGAT GGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGG TGACAGTAGTACTCCCAGTGATGGTGTCATGGTGGAGATGGTGATGGTGG TGGTGATGGTAGTACTCCCGGTGATGGTGTCAGTGGTGGGGATGGTGATG GTGGTGGTGACGGTAGTACTCCTGGTGATGGTGTCAGTGGTGGGGATGGT GATGGTGGTGGTGATGGTAGTATTCCCAGTGATGGTGTCAGTGGTGGGGA TGGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTA TTCCCAGTGATAGTGTCAGTGGTGGGGATGGTGATGGTGGTGGCGATGGT GGTATTCCTGGTGATGGTGTCAGTGGTGGGGAGAGTGGTGGTGATGATGG TAGTACCCCTGGTGGTGGTGATTATGAAAATGGCTATGTCAGTGATGCTG ATTGTGATGGTGACTGAAGTTCTGGAGGTGATGGGGTAATGAAGGTAGTG ATGGCTATGGTGGTGATGGTGGAGATAATGGAGATGGTGGTC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	121	0.0083	891	c.-78 others(910): Show c.-78-12979_-78-12978insACCCCTGGTGATGGTTTCAGTGGTGG AGATGATGACAGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGGTGGTG TCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGTGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGG TGATGGTGATGGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGATGGTG ATGGTGGTGGTGATGGTAGTATTCCCGGTGATGGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGTGACAGTAGTACTCCCAGTGATGGTGTCATGGTGGA GATGGTGATGGTGGTGGTGATGGTAGTATTCCCGGTGATGGTGTCAGTGG TGGGGATGGTGATGGTGGTGGTGACAGTAGTACTCCCAGTGATGGTGTCA TGGTGGAGATGGTGATGGTGGTGGTGATGGTAGTACTCCCGGTGATGGTG TCAGTGGTGGGGATGGTGATGGTGGTGGTGACGGTAGTACTCCTGGTGAT GGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTAGTATTCCCAG TGATGGTGTCAGTGGTGGGGATGGTGATGGTGGTGGTGATGGTGTCAGTG GTGGGGATGGTGATGGTGGTATTCCCAGTGATAGTGTCAGTGGTGGGGAT GGTGATGGTGGTGGCGATGGTGGTATTCCTGGTGATGGTGTCAGTGGTGG GGAGAGTGGTGGTGATGATGGTAGTACCCCTGGTGGTGGTGATTATGAAA ATGGCTATGTCAGTGATGCTGATTGTGATGGTGACTGAAGTTCTGGAGGT GATGGGGTAATGAAGGTAGTGATGGCTATGGTGGTGATGGTGGAGATAAT GGAGATGGTGGTCAT	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(884): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCC ACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCCACATCCATCCTAT CCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCATCCAC TATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCATCCAC CATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCACCC ACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCTACC CATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCCATC CATCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCCACCCACA CTGTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCTATTCATC CATCCACCCACCCACCCTATCTATCCACCCACCCACCCACACTATCCATC CACCCACCCAACCACCCATCCTATTCATCCATCCATCCACCCACCCAGTC TATCCACCCACCCACCTATCCTATTCATCCATCCCCCCACCCACCCTATC TATCCACCCACCCACACACCCACACTATCCACCCACCCACACACCCTATC TACCCACCCAATATATCCACCCACCCACCTACACCATCCACCCACCCACC CTATCTATCCACCCACCCACACTATCCATCCACCCACCTATCCTATTCAT CCATCCATCCACCTACCCAGCCAATTTATCCACCCACCCACCTACCCTAT CTATCCACCCATCCACCTATCCTATTCATCCATCCACCCACC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0092 a0001c0002t0002g0092	1	28	0.0357	891	c.113 others(910): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCA CCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCA CCCCCCCCCACATCCATCCTATCCACCCACCCACCCACCATCCACCATCC TATCCACCCACCCATCATCCACTATCCATCCACCACCCCCACACCCATCC TATCCACCCACCCATCATCCACCATCCACTCACCCTCCATCCACTATCCA TCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTACTCACCCAC CCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATA TCCATCCACCCACCTACCCATCCATCCTATCCATCCACCCATCCACCCAC CGTATCTATCCACCCACCCACACTGTCCATCCACCCACCCACCCATCCAC CCACCCACCTATCCTATTCATCCATCCACCCACCCACCCTATCTATCCAC CCACCCACCCACACTATCCATCCACCCACCCAACCACCCATCCTATTCAT CCATCCATCCACCCACCCAGTCTATCCACCCACCCACCTATCCTATTCAT CCATCCCCCCACCCACCCTATCTATCCACCCACCCACACACCCACACTAT CCACCCACCCACACACCCTATCTACCCACCCAATATATCCACCCACCCAC CTACACCATCCACCCACCCACCCTATCTATCCACCCACCCACACTATCCA TCCACCCACCTATCCTATTCATCCATCCATCCACCTACCCAGCCAATTTA TCCACCCACCCACCTACCCTATCTATCCACCCATCCACCTATCCTATTCA TCCATCCACCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(884): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATC CACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCTAT CCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCATCCAC TATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCATCCAC CATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCACCC ACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCTACC CATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCCATC CATCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCCACCCACA CTGTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCTATTCATC CATCCACCCACCCACCCTATCTATCCACCCACCCACCCACACTATCCATC CACCCACCCAACCACCCATCCTATTCATCCATCCATCCACCCACCCAGTC TATCCACCCACCCACCTATCCTATTCATCCATCCCCCCACCCACCCTATC TATCCACCCACCCACACACCCACACTATCCACCCACCCACACACCCTATC TACCCACCCAATATATCCACCCACCCACCTACACCATCCACCCACCCACC CTATCTATCCACCCACCCACACTATCCATCCACCCACCTATCCTATTCAT CCATCCATCCACCTACCCAGCCAATTTATCCACCCACCCACCTACCCTAT CTATCCACCCATCCACCTATCCTATTCATCCATCCACCCACC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	28	0.0357	891	c.113 others(910): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCCACCATCCCCCATCCTATCCACCC ACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCC ACCCCCCCCACATCCATCCTATCCACCCACCCACCCACCATCCACCATCC TATCCACCCACCCATCATCCACTATCCATCCACCACCCCCACACCCATCC TATCCACCCACCCATCATCCACCATCCACTCACCCTCCATCCACTATCCA TCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTACTCACCCAC CCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATA TCCATCCACCCACCTACCCATCCATCCTATCCATCCACCCATCCACCCAC CGTATCTATCCACCCACCCACACTGTCCATCCACCCACCCACCCATCCAC CCACCCACCTATCCTATTCATCCATCCACCCACCCACCCTATCTATCCAC CCACCCACCCACACTATCCATCCACCCACCCAACCACCCATCCTATTCAT CCATCCATCCACCCACCCAGTCTATCCACCCACCCACCTATCCTATTCAT CCATCCCCCCACCCACCCTATCTATCCACCCACCCACACACCCACACTAT CCACCCACCCACACACCCTATCTACCCACCCAATATATCCACCCACCCAC CTACACCATCCACCCACCCACCCTATCTATCCACCCACCCACACTATCCA TCCACCCACCTATCCTATTCATCCATCCATCCACCTACCCAGCCAATTTA TCCACCCACCCACCTACCCTATCTATCCACCCATCCACCTATCCTATTCA TCCATCCACCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1629129	C C	CAGAACTC others(884): Show CAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGT GAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGA CAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGG GGTGGGGCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGG GGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCAC AGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACAGAGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGC GGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCA GAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGGG GCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGGGGACAG CAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGG TGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGA CAGCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGG GGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGG GGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCAC AGGGGGTGGAGCGGGAAGGGGACAGCAGAGCTCATGGGGATGGGGTGGGA AGGGGACAGCAGAGCTCACGGGTGGGGCGGGAAGGGGACAGA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0069 a0002c0001t0007g0069	1	174	0.0057	891	c.299 others(908): Show c.299-1704_299-1703insTCTGTCCCCTTCCCGCCCCACCCGTGAG CTCTGCTGTCCCCTTCCCACCCCATCCCCATGAGCTCTGCTGTCCCCTTC CCGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGT GAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTCCC CTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCC CGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTC CCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCAC CCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTAC TGTCCCCTTCCCGCCCCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTC ACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCTCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAG CTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTC CCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGT GAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTCCC CTTCCCGCCCCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCC TGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGT CCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCA CCCCGTGAGTTCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGATCAC others(884): Show CCGATCACCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACTGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCG CCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCA CACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACG ACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAG TCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAG ACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0183 a0001c0003t0001g0183	1	98	0.0102	891	c.228 others(910): Show c.2287-1509_2287-1508insTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGGTGACTGTGGATGGCGATCGGTCACAGGGGTCTGATGTGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTG ACTGTGGATGGCAGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGA TGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGAC TGTGGATGGTGATCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMEM132D_chr12_129066726_129909025	129828754	G G	GGGAGGAA others(884): Show GGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGA GGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAGGGAGGGAGG GAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGA GGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGAAGGGAGGGAGGGAGG AAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGG AAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGA GGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGA GGAAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGAAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGAAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGAAGGGAGGGA GGGAGAAGGAAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGG AGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	64	0.0156	891	c.79+ others(908): Show c.79+74506_79+74507insTTTTCTTCCTCCCTCCCTCCCTCCTTTC CTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCT CCCTTCCTTCTCCCTCCCTCCCTTCCTCCTTTCCTCCCTCCCTCCCTCCC TCCTTTCCTCCCTCCCTCCCTCCCTTCCTCCTTTCCTCCCTCCCTCCCTC CCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTTCC TCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTC CCTCCCTCCCTTCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCC TCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTC CTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCC TCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTC CCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCC TCCCTCCCTCCTTTCCTCCCTCCCTCCCTTCCTCCTTTCCTCCCTCCCTC CCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCC TCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTT CCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCT TTCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTCCCTCCCTCCCTC CTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTC CCTCCTTTCCTCC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(884): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATACTATATCA TCATATGATGATATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	98	0.0102	891	c.41- others(908): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATACTATATCA TCATATGATGATATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TWIST2_chr2_238843085_238915534	238870319	C C	CACACACC others(884): Show CACACACCCCACACACACACATCACATACCACACACACATCACATACCAC ACACACCCCACACACACATCACATACCACACACAAACCACACACCACACA CACACCACACACCCCACACACACCACACACCCCACACACACCACACCCCA TACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCA CACACACCACACCCCATACACACCACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACCCCACACACACCACACACCCCACA CACACCACACCCCACACACACCACACCCCACACACACCACACCCCATACA CACCACACACCCCACACACACCACACACCCCACACACACCACACCCCACA CACACCACACCCCATACACACCACACCCCATACACACCACACCCCACACA CACCACACACCCCACACACACCACACCCCACACACACCACACACCGCACA CACACCACACCCCATACACACCACACACCCCACACACACCACACACCCCA CACACACCACACACCCCACACACACCACACACACCACACCCCACACACAC CACACCCCACACACACCACACACCCCACACACACCACACACACCACACCC CACACACACCACACCCCACACACCCCACACACACCACACACCCCACACAC ACCACACACACCACACACCCCACACACACCACACACACCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC ACACCACACCCCACACACACCACACACACCACAGCCCACACACACCACAC ACACCACACCCCACACACACCACACACACCACACCCCACACA	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18522.hp1 HG02818.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0185 a0001c0001t0002g0325 a0001c0001t0001g0185 a0001c0001t0002g0325	2	317	0.0063	891	c.35 others(910): Show c.35+21586_*35+21587insACACACCCCACACACACACATCACAT ACCACACACACATCACATACCACACACACCCCACACACACATCACATACC ACACACAAACCACACACCACACACACACCACACACCCCACACACACCACA CACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCATACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACCCCATACACACCACACACCCCACACACACCACACA CCCCACACACACCACACCCCACACACACCACACCCCATACACACCACACC CCATACACACCACACCCCACACACACCACACACCCCACACACACCACACC CCACACACACCACACACCGCACACACACCACACCCCATACACACCACACA CCCCACACACACCACACACCCCACACACACCACACACCCCACACACACCA CACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCA CACACACCACACACACCACACCCCACACACACCACACCCCACACACCCCA CACACACCACACACCCCACACACACCACACACACCACACACCCCACACAC ACCACACACACCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACACACCACACCCCACACACACCACACAC ACCACAGCCCACACACACCACACACACCACACCCCACACACACCACACAC ACCACACCCCACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(884): Show TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATAATTATATATAATAATATAATATATATTATTATAT ATTATTATATATAATAATATAATATATATTATTATATATAATTATATATA ATAATATATATTATATTATTATATATAATTATATATAATAATATAATATA TATTATTATATATTATTATATATAATAATATAATATATATTATTATATAT AATTATATATAATAATATAATATATATTATTATATATAATTATATATAAT AATATAATATATATTATTATATATAATTATATATAATAATATAATATATA TTATTATATATAATAATAATATATATATATTATTATATATAATTATATAT AATAATATAATATATATTATTATATATAATTATATATAATAATATAAATA TATTATTATATATTATTATATATAATAATATAATATATATTATATATTAT TATTATATATAATATAATAATATATTATATATTATTATATATAATAATAT AATATATATTATTATATATTATTATATATAATAATATAATATATATTATT ATATATAATAATATAATATATATTATTATATATTATTATATATAATAATA TAATATATATTATTATATATAATAATATAATATATATTATTATATATTAT TATATATAATAATATAATATATATTATTATATATAATAATATAATATATA TTATTATATATTATTATATATAATAATATAATATATATTATTATATATTA TTATATATAATAATATAATATATATTATTATATATTATTATATATAATAA TATAATATATATTATTATATATTATTATATATAATAATATAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	83	0.0120	891	c.392 others(908): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATAATAATATATATTATATTATTATATATA ATAATATATAATAATATATATTATATTATTATATATAATAATATATATTA TATTATTATATATAATAATATATAATAATATATATTATATTATTATATAT AATAATATATATTATATTATTATATATAATAATATATAATAATATATATT ATATTATTATATATAATAATATATATTATATTATTATATATAATAATATA TAATAATATATATTATATTATTATATATAATAATATATAATATATTATTA TATTATATATAATAATAATATATAATATATATTATATTATTATATATAAT AATATATAATAATATATTTATATTATTATATATAATTATATATAATAATA TATATTATATTATTATATATAATTATATATAATAATATATATATATTATT ATTATATATAATAATATATATTATATTATTATATATAATTATATATAATA ATATATATTATATTATTATATATAATTATATATAATAATATATATTATAT TATTATATATAATTATATATAATAATATATATTATATTATTATATATAAT AATATATAATAATATATATTATATTATTATATATAATTATATATAATAAT ATAATATATATTATTATATATAATTATATATAATAATATATATTATATTA TTATATATAATAATATATAATAATATATATTATATTATTATATATAATTA TATATAATAATATATATTATATTATTATATATAATAATATATAATAATAT ATATTATATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(884): Show TATAATAATATAATATATATTATTATATAATATTATATATAATAATATAA TATATAATTATATATTATTATATATAATAATATAATATATATTATTATAT ATGATCATATATAATAATATAATATATATTATTATATATGATCATATATA ATAATATAATATATATTATTATATATGATCATATATAATAATATAATATA TATTATTATATATGATCATATATAATAATATAATATATATTATTATATAT GATCATATATAATAATATAATATATATTATTATATATGATCATATATAAT AATATAATATATATTATTATATATAATCATATATAATAATATAATATATA TTATTATATATGATCATATATAATCATATATTATATATTATTATATATAA TCATATATAATAATATAATATATGATTATATATAATCATATATAATCATA TATTATATATTATTATATATAATCATATATAATAATATAATATATATTAT TATATATGATCATATATAATAATATATTATATATGATCATATATGATCAT ATATAATAATATATTATATATTATTATATATGATCATATATAATAATATA ATATATATTATTATATATGATCATATATAATAATATAATATATATTATTA TATATGATCATATATAATAATATAATATATATTATTATATATGATCATAT ATAATAATATAATATATATTATTATATATGATCATATATAATAATATAAT ATATATTATTATATATGATTATATATAATAATATAATATATATTATTATA TATGATTATATATAATATAATATATATTATTATATATGATTATATATAAT AATATAATATATATTATTATATATTATTATATATTATTATAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0143 a0003c0004t0004g0143	1	99	0.0101	891	c.392 others(908): Show c.392+6154_392+6155insTTATAATAATATATAATAATATATAATA ATATATATTATATTATTATATATAATCATATATAATAATATATATTATAT TATATATAATCATATATAATAATATATATTATATTATTATATATAATCAT ATATAATAATATATATTATATTATTATATATGATCATATATAATAATATA TATTATATTATTATATATGATCATATATAATAATATATATTATATTATTA TATATGATCATATATAATAATATATATTATATTATTATATATGATCATAT ATAATAATATATATTATATTATTATATATGATCATATATAATAATATATA ATATATTATTATATATGATCATATATGATCATATATAATATATTATTATA TATGATCATATATAATAATATATATTATATTATTATATATGATTATATAT AATAATATATAATATATGATTATATATGATTATATATAATCATATATTAT ATTATTATATATGATTATATATAATAATATATAATATATGATTATATATG ATCATATATAATAATATATATTATATTATTATATATGATTATATATAATA ATATATATTATATTATTATATATGATCATATATAATAATATATATTATAT TATTATATATGATCATATATAATAATATATATTATATTATTATATATGAT CATATATAATAATATATATTATATTATTATATATGATCATATATAATAAT ATATATTATATTATTATATATGATCATATATAATAATATATATTATATTA TTATATATGATCATATATAATAATATATATTATATTATTATATATAATAA TATATAATTATATATTATATTATTATATATAATATTATATAATAATATAT ATTATATTATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UCN3_chr10_5359966_5379692	5369891	G G	GTGTGTAT others(884): Show GTGTGTATATGTGCGTGTATATGTGTGTGTATGTGTGTGTATATGTGTGT GTATATGTGCGTATATGTGTGTGTGTGTATATGTGCGTGTATATGTGCGT GTGTATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTATGTGTGT GTGTATGTGTGTGTATATGTGTGTGTGTATGTGCGTGTGTATATGCGTGT GTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTGTATATGTGTGTGTGT GTGTATGTGTGTGTGTGTGTATATGTGTGTGTATATGTGTGTGTATATGT GTGTATATGTGTGTGTATATGTGTGTGTATATGTGTGTTCATGTGTATGT GTGTAAGGTGTGTATGTGTCTGTGTATATGTGTGTGTATATGTGTGTGTA TATGTGTGTGTATATGCGTGTGTATATGTGTGTGTGTATATGTGTGTATG TGTGTGTGTATATGCGTGTGTGTATATGCGTGTGTGTATGTGTGTATGTG TGTGTATGTGTGTGTATATGCGTGTGTGTATATGTGTGTATATGTGTGTA TATGCGTGTGTATATGCGTGTGTATATGCGTGTGTATGTGTGTGTATGTG TGTGTATGTGTGTGTATATGTGTGTATATGTGTGTGTACGTGTGTGTATG TGTGTGTGTATGTGTGTGTGTATATGCGTGTGTATACGTGTGTATATGTG TGTATGTGTGTGTATATGCGTGTGTATATGTGTGTGTGTATGTGTGTATG TGTGTGTGTATGTGTGTGTGTATATGCGTGTGTATATGTGTGTGTGTATA TGTGTGTATATGTGTGTGTGTATATGTGCGTGTATATGTGTGTGTATGTG TGTATGTGTGTGTGTGTGTGTGTATGTGTGTATGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0368 a0002c0002t0005g0368	1	408	0.0025	891	c.-6- others(906): Show c.-6-3819_-6-3818insATATGTGCGTGTATATGTGTGTGTATGTGT GTGTATATGTGTGTGTATATGTGCGTATATGTGTGTGTGTGTATATGTGC GTGTATATGTGCGTGTGTATGTGTGTATGTGTGTGTATATGTGTGTGTAT GTGTGTATGTGTGTGTGTATGTGTGTGTATATGTGTGTGTGTATGTGCGT GTGTATATGCGTGTGTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTGT ATATGTGTGTGTGTGTGTATGTGTGTGTGTGTGTATATGTGTGTGTATAT GTGTGTGTATATGTGTGTATATGTGTGTGTATATGTGTGTGTATATGTGT GTTCATGTGTATGTGTGTAAGGTGTGTATGTGTCTGTGTATATGTGTGTG TATATGTGTGTGTATATGTGTGTGTATATGCGTGTGTATATGTGTGTGTG TATATGTGTGTATGTGTGTGTGTATATGCGTGTGTGTATATGCGTGTGTG TATGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTGTGTGTATATGTG TGTATATGTGTGTATATGCGTGTGTATATGCGTGTGTATATGCGTGTGTA TGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTATATGTGTGTG TACGTGTGTGTATGTGTGTGTGTATGTGTGTGTGTATATGCGTGTGTATA CGTGTGTATATGTGTGTATGTGTGTGTATATGCGTGTGTATATGTGTGTG TGTATGTGTGTATGTGTGTGTGTATGTGTGTGTGTATATGCGTGTGTATA TGTGTGTGTGTATATGTGTGTATATGTGTGTGTGTATATGTGCGTGTATA TGTGTGTGTATGTGTGTATGTGTGTGTGTGTGTGTGTATGTGTGTATGTG TGTGTATGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370262	C C	CGTGTGTA others(884): Show CGTGTGTATGTGTGTGTATGTGTGTGTGTATGGGTGTGTATATGTGTGTA TGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTG TATGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTATG CGTGTGGGTATATGCGTGTGTATGCGTGTGGGTATATGCGTGTGTGTGTA TGCGTGTGTGTATATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTG TGTGTATCTGTGTGTGTGTGTATGTGTGTATGTGTGTGTATATGTGTGTA TGTGTGTGTGTATCTGTGTGTGTGTGTGTGTATGTGTGTGTATGTGTGTG TGTATGTGTGTATATGTGTGTATATGTGTGTGTACGTGTGTGTGTGTATG TGTGTATGTGTGTGTATGTGTGTATGTGTGTATGTGTGTATGTGTGTGTA TGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTGTATATG CGTGTGTATGCGTGTGTGTATATGCGTGTGTATATATGCGTGTGTGTATG CGTGTGTATGCGTGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTGTG TATGCGTGTGTATGCGTGTGTATGGGTGTGTGTATGTGTGTGTATGTGTG TGTGTATATGTGTGTATATGTGTGTGTATATGTGTGTATGTGTGTATATG TGTGCGTATATGCGTGTGTATATGCGTGTGTATGTGCGTGTGTATATGCG TGTGTATGTGTGTATGTGTGTGTATATGATGTGAGTGTATATGCGTGTGT ATATGCGTGTGTATATGCGTGTGTGTGTGTATGCGTGTGTATATGTGTGT GTATATGTGTGTGTGCGTGTGTGTGCGCGTGTGTGTGCGTGT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0161 a0002c0002t0003g0161	1	341	0.0029	891	c.-6- others(906): Show c.-6-3445_-6-3444insGTGTGTGTATGTGTGTGTGTATGGGTGTGT ATATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGT ATGTGTGTGTGTATGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATAT GCGTGTGTATGCGTGTGGGTATATGCGTGTGTATGCGTGTGGGTATATGC GTGTGTGTGTATGCGTGTGTGTATATGTGTGTATGTGTGTGTATATGTGT GTGTATGTGTGTGTGTATCTGTGTGTGTGTGTATGTGTGTATGTGTGTGT ATATGTGTGTATGTGTGTGTGTATCTGTGTGTGTGTGTGTGTATGTGTGT GTATGTGTGTGTGTATGTGTGTATATGTGTGTATATGTGTGTGTACGTGT GTGTGTGTATGTGTGTATGTGTGTGTATGTGTGTATGTGTGTATGTGTGT ATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGT GTGTGTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTATATATGC GTGTGTGTATGCGTGTGTATGCGTGTGTGTATGTGTGTGTATGTGTGTGT ATATGCGTGTGTATGCGTGTGTATGCGTGTGTATGGGTGTGTGTATGTGT GTGTATGTGTGTGTGTATATGTGTGTATATGTGTGTGTATATGTGTGTAT GTGTGTATATGTGTGCGTATATGCGTGTGTATATGCGTGTGTATGTGCGT GTGTATATGCGTGTGTATGTGTGTATGTGTGTGTATATGATGTGAGTGTA TATGCGTGTGTATATGCGTGTGTATATGCGTGTGTGTGTGTATGCGTGTG TATATGTGTGTGTATATGTGTGTGTGCGTGTGTGTGCGCGTGTGTGTGCG TGTGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(884): Show TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCC CCCTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTC CCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCTTCCCTCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCC CCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTC CCCCCTTTCCCCCTTCTCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCC CCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	100	0.0100	891	c.-10 others(908): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTTTCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCC CCTTCCCCCTTCCCCCTTCCCCCCTCCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCC TTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTT CCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCTCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCC CTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTT CCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCTCCCTTCCCCCCT TTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTC CCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ABCB11_chr2_168915781_169036324	168975232	T T	TTTATATA others(885): Show TTTATATATTTATATATTTATAGATAAATATATAAATATATAAATATATA TATATTTATAGATAAATATATAAATATATAAATATATATATATTTATAGA TAAATATATAAATATATATATATTTATAGATAAATATATAAATATATAGA TATATATTTATAGATAAATATATATATATAAATATTTATATATTTATAGA TAAACGTATAAATATTTATATATTTATAGATAAACGTATAAATATTTATA TATTTATAGATAAACGTATAAATATTTATATATTTATAGATAAACGTATA AATATTTATATATTTATAGATAAACGTATAAATATTTTTATATTTATAGA TAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTTA TATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTATA AATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAGA TAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTTA TATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTATA AATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAGA TAAACGTATAAATATTTTTATATTTATAGATAAACGTATAAATATTTTTA TATTTATAGATAAACGTATAAATATTTTTATATTTATAGATAAACGTATA AATATTTTTATATTTATAGATAAACGTATAAATATTTTTATATTTATAGA TAAACGTATAAGTATTTTTATATTTATAGATAAACGTATAAGTATTTTTA TATTTATAGATATATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0206 a0001c0006t0002g0206	1	286	0.0035	892	c.130 others(911): Show c.1308+1344_1308+1345insCTATAAATATAAAAATATTTATATAT TTATATATCTATAAATATAAAAATACTTATACGTTTATCTATAAATATAA AAATACTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCT ATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTAT ACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAA AAATATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCT ATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTAT ACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAA AAATATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCT ATAAATATAAAAATATTTATACGTTTATCTATAAATATAAAAATATTTAT ACGTTTATCTATAAATATAAAAATATTTATACGTTTATCTATAAATATAA AAATATTTATACGTTTATCTATAAATATAAAAATATTTATACGTTTATCT ATAAATATATAAATATTTATACGTTTATCTATAAATATATAAATATTTAT ACGTTTATCTATAAATATATAAATATTTATACGTTTATCTATAAATATAT AAATATTTATACGTTTATCTATAAATATATAAATATTTATATATATATAT TTATCTATAAATATATATCTATATATTTATATATTTATCTATAAATATAT ATATATTTATATATTTATCTATAAATATATATATATTTATATATTTATAT ATTTATCTATAAATATATATATATTTATATATTTATATATTTATCTATAA ATATATAAATATATAA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ACAP3_chr1_1287391_1312930	1290181	G G	GTCCCGTG others(885): Show GTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCG TGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CCCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCG TGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTG TCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC CGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCC GTCCCGTGTCCCTGCCCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTG CCCCGTCCCCCGTGTCTCTGCTCCATCCCGTGTCTCTGCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	294	0.0034	892	c.33 others(903): Show c.3382_*3383insTGGAGCAGAGACACGGGATGGAGCAGAGACACGG GGGACGGGGCAGAGACACGGGACGGGGCAGGGACACGGGACGGGGCAGGG ACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGC AGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACG GGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGG GGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAG AGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACG GAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGG GGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAG ACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGA GCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGA CGGAGCAGAGACACGGGGGACGGAGCAGAGACTCGGGGGACGGAGCAGAG ACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGGGACGGA GCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGG GGGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAG GGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGG GCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACAC GGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGG ACACGGGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2209		chr1	TogoVar
ARHGEF7_chr13_111110310_111310732	111221356	T T	TATATATC others(885): Show TATATATCTATATAGATATATATGTCTATATATATCTATATAGATATATA TGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGA TATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTA TATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATATA TATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGGA CATATATATCTATATAGATATATATGGACATATATATCTATATAGATATA TATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATA GATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATC TATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATA TATATCTATATAGATATATATGTCTATATATATCTATATAGATATATATG TCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGATA TATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATA TAGATATATATGTCTATATATATCTATATAGATATATATGTCTATATATA TCTATATAGATATATATGTCTATATATATCTATATATATCTATATAGATA TATATGTCTATATATATCTATATATATCTATATAGATATATATGTCTATA TATATCTATATAGATATATATGTCTATATATATCTATATAGATATATATG TCTATATATATCTATATATAGATATATATAGACATATATATCTATATATA GATATATATAGATATATATGTCTATATATAGATATATATAGAC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0252 a0001c0001t0009g0252	1	148	0.0068	892	c.670 others(909): Show c.670+3482_670+3483insCTATATAGATATATATGTCTATATATAT CTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTAT ATATATCTATATAGATATATATGTCTATATATATCTATATAGATATATAT GTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGAT ATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTAT ATAGATATATATGGACATATATATCTATATAGATATATATGGACATATAT ATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCT ATATATATCTATATAGATATATATGTCTATATATATCTATATAGATATAT ATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAG ATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCT ATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATAT ATATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGT CTATATATATCTATATAGATATATATGTCTATATATATCTATATAGATAT ATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATAT ATATCTATATAGATATATATGTCTATATATATCTATATATATCTATATAG ATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCT ATATAGATATATATGTCTATATATATCTATATATAGATATATATAGACAT ATATATCTATATATAGATATATATAGATATATATGTCTATATATAGATAT ATATAGACATATAT	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARHGEF7_chr13_111110310_111310732	111221356	T T	TATATATC others(885): Show TATATATCTATATAGATATATATGTCTATATATATCTATATAGATATATA TGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGA TATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTA TATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATATA TATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGTC TATATATATCTATATAGATATATATGGACATATATATCTATATAGATATA TATGGACATATATATCTATATAGATATATATGGACATATATATCTATATA GATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATC TATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATA TATATCTATATAGATATATATGTCTATATATATCTATATAGATATATATG TCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGATA TATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATA TAGATATATATGTCTATATATATCTATATAGATATATATGTCTATATATA TCTATATAGATATATATGTCTATATATATCTATATATATCTATATAGATA TATATGTCTATATATATCTATATATATCTATATAGATATATATGTCTATA TATATCTATATAGATATATATGTCTATATATATCTATATAGATATATATG TCTATATATATCTATATATAGATATATATAGACATATATATCTATATATA GATATATATAGATATATATGTCTATATATAGATATATATAGAC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0253 a0001c0001t0009g0253	1	148	0.0068	892	c.670 others(909): Show c.670+3482_670+3483insCTATATAGATATATATGTCTATATATAT CTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTAT ATATATCTATATAGATATATATGTCTATATATATCTATATAGATATATAT GTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGAT ATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTAT ATAGATATATATGTCTATATATATCTATATAGATATATATGGACATATAT ATCTATATAGATATATATGGACATATATATCTATATAGATATATATGGAC ATATATATCTATATAGATATATATGTCTATATATATCTATATAGATATAT ATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAG ATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCT ATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATAT ATATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGT CTATATATATCTATATAGATATATATGTCTATATATATCTATATAGATAT ATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATAT ATATCTATATAGATATATATGTCTATATATATCTATATATATCTATATAG ATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCT ATATAGATATATATGTCTATATATATCTATATATAGATATATATAGACAT ATATATCTATATATAGATATATATAGATATATATGTCTATATATAGATAT ATATAGACATATAT	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARHGEF7_chr13_111110310_111310732	111221356	T T	TATATATC others(885): Show TATATATCTATATAGATATATATGTCTATATATATCTATATAGATATATA TGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGA TATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTA TATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATATA TATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGTC TATATATATCTATATAGATATATATGGACATATATATCTATATAGATATA TATGGACATATATATCTATATAGATATATATGTCTATATATATCTATATA GATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATC TATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATA TATATCTATATAGATATATATGTCTATATATATCTATATAGATATATATG TCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGATA TATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATA TAGATATATATGTCTATATATATCTATATAGATATATATGTCTATATATA TCTATATAGATATATATGTCTATATATATCTATATATATCTATATAGATA TATATGTCTATATATATCTATATATATCTATATAGATATATATGTCTATA TATATCTATATAGATATATATGTCTATATATATCTATATAGATATATATG TCTATATATATCTATATATAGATATATATAGACATATATATCTATATATA GATATATATAGATATATATGTCTATATATAGATATATATAGAC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0254 a0001c0001t0009g0254	1	148	0.0068	892	c.670 others(909): Show c.670+3482_670+3483insCTATATAGATATATATGTCTATATATAT CTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTAT ATATATCTATATAGATATATATGTCTATATATATCTATATAGATATATAT GTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGAT ATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTAT ATAGATATATATGTCTATATATATCTATATAGATATATATGGACATATAT ATCTATATAGATATATATGGACATATATATCTATATAGATATATATGTCT ATATATATCTATATAGATATATATGTCTATATATATCTATATAGATATAT ATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAG ATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCT ATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATAT ATATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGT CTATATATATCTATATAGATATATATGTCTATATATATCTATATAGATAT ATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATAT ATATCTATATAGATATATATGTCTATATATATCTATATATATCTATATAG ATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCT ATATAGATATATATGTCTATATATATCTATATATAGATATATATAGACAT ATATATCTATATATAGATATATATAGATATATATGTCTATATATAGATAT ATATAGACATATAT	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ASMT_chrX_1610059_1648081	1626799	G G	GGGTGGAT others(885): Show GGGTGGATCACCTGAGGTCATGAGTTTTGAGACCAGCCTGACCAACATAG TGAAACCCCATCTCTACTAAAAAATACAAAAATGAGCCAGGCATGGTGGC GGGTGCCTGTCATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTT GAACCCAGGAGGTGGAGATTGCAGTGAGCCAAGATCGCGCCATTGCACTC CAGCCTGGGCGACACAGCGAGACTCCGTCTCATAAAATAAAATAAGGCCA GGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGG GCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATAGTGA AACCCCATCTCTACTAAAAAATACAAAAATGAGCCAGGCATGGTGGCGGG TGCCTGTCATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAA CCGAGGAGGCGGAGATTACAGTGAGCCAAGATCGCGCCATTGCACTCCAG CCTGGGCGACACAGCGAGACTCCGTCTCATAAAATAAAATAAGGCCAGGT GCGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCAGGTG GATCACCTGAGGTCACGAGTTCGAGACCAGCCTGACCAACATAGTGAAAC CCCATCTCTACTAAAAAATACAAAAATGAGCCAGGCATGGTGGCGGGTGC CTGTCATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCG AGGAGGTGGAGATTGCAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCT GGGCGACACAGCGAGACTCCGTCTCATAAAATAAAATAAGGCCAGGTGCG GTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0071 a0001c0003t0001g0071	1	220	0.0045	892	c.375 others(907): Show c.375-885_375-884insTGAGTTTTGAGACCAGCCTGACCAACATAG TGAAACCCCATCTCTACTAAAAAATACAAAAATGAGCCAGGCATGGTGGC GGGTGCCTGTCATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTT GAACCCAGGAGGTGGAGATTGCAGTGAGCCAAGATCGCGCCATTGCACTC CAGCCTGGGCGACACAGCGAGACTCCGTCTCATAAAATAAAATAAGGCCA GGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGG GCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATAGTGA AACCCCATCTCTACTAAAAAATACAAAAATGAGCCAGGCATGGTGGCGGG TGCCTGTCATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAA CCGAGGAGGCGGAGATTACAGTGAGCCAAGATCGCGCCATTGCACTCCAG CCTGGGCGACACAGCGAGACTCCGTCTCATAAAATAAAATAAGGCCAGGT GCGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCAGGTG GATCACCTGAGGTCACGAGTTCGAGACCAGCCTGACCAACATAGTGAAAC CCCATCTCTACTAAAAAATACAAAAATGAGCCAGGCATGGTGGCGGGTGC CTGTCATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGCTTGAACCG AGGAGGTGGAGATTGCAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCT GGGCGACACAGCGAGACTCCGTCTCATAAAATAAAATAAGGCCAGGTGCG GTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCAGGTGGAT CACCTGAGGTCA	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(885): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCC TGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCC CCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTG CGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCA GCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	223	0.0045	892	c.36 others(903): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTG CGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCC GGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCCGTCCAGGCCCCGACGCGTGCAGC CTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(885): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	296	0.0034	892	c.36 others(903): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCT GGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
CEP295_chr11_93656682_93735358	93685841	G G	GAGAGATT others(885): Show GAGAGATTTTGATCTCTCAAACATCTCTATCTCCAACATTCTGAACTTTT TTACTTGGCTGTCCCATAGTTAAAACTGCATGTCTAGCAATACATTTATG ATCTTCTCTTGCCTACTAAAACTGTCTCTACCTGTCTTTTCTATCTTAGT GAATGGTATCACAGTCTGCAGTTACCCAAGCCAGACCACTGGGAGTTACC TTTAATACTTTCCTTTTACCTGCATGTCTCCTTAAAGACCAAGTCCTCTT CATGGAATTCAGCTATTTTTGCCCCGTATCTACTGGTATTTCCTTTGTTT AAAACCACTGAGGCTTTCTTATCGTCTTCACCCTACACTGTGAACATAGC CTTTTGGGATTCCAACTTTATGTAGGCCTCCTATTATGTAGGCCTCCCAT ATCTACTGGTATTTCCTTTGTTTAAAACCACCCAGGCTTTCTTATCATCT TCACCCTACACCGTGAACGTAGCCTTTTGGGATTCCAACTTTATGTAGGC CTCCTATTAGACTCCTCAAGTGAGGGCTCTAGGCCTTATTCATGTCTCCT ATGCCTACATTGTTGTCCAAACGGAAGCCTAAGGTTACTACCAGCAACTG GGGAAAAAAAAGCAGCAGCAGCTTAAGGTTACTGTGTTTTGACTTTGGCA TAAGCTTGGCAGAAGATGGTTTCAGGGCTGACTTGCCTTCCCTCCAAGCT TTCCACTTAAATTTCATTTCTGTCCTCTGCAGAACCTTTTCTTTTCATGC CAGGTCAGCTGTGTCTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAG ATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGG CTCACCACAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02080.hp2 NA19005.hp1 others(4): Show HG00438.hp2 HG02080.hp2 NA19005.hp1 NA19009.hp1 NA19055.hp2 NA19065.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0251 a0001c0001t0001g0252 others(3): Show a0001c0001t0001g0018 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255	7	352	0.0199	892	c.111 others(911): Show c.1114+1713_1114+1714insAGAGATTTTGATCTCTCAAACATCTC TATCTCCAACATTCTGAACTTTTTTACTTGGCTGTCCCATAGTTAAAACT GCATGTCTAGCAATACATTTATGATCTTCTCTTGCCTACTAAAACTGTCT CTACCTGTCTTTTCTATCTTAGTGAATGGTATCACAGTCTGCAGTTACCC AAGCCAGACCACTGGGAGTTACCTTTAATACTTTCCTTTTACCTGCATGT CTCCTTAAAGACCAAGTCCTCTTCATGGAATTCAGCTATTTTTGCCCCGT ATCTACTGGTATTTCCTTTGTTTAAAACCACTGAGGCTTTCTTATCGTCT TCACCCTACACTGTGAACATAGCCTTTTGGGATTCCAACTTTATGTAGGC CTCCTATTATGTAGGCCTCCCATATCTACTGGTATTTCCTTTGTTTAAAA CCACCCAGGCTTTCTTATCATCTTCACCCTACACCGTGAACGTAGCCTTT TGGGATTCCAACTTTATGTAGGCCTCCTATTAGACTCCTCAAGTGAGGGC TCTAGGCCTTATTCATGTCTCCTATGCCTACATTGTTGTCCAAACGGAAG CCTAAGGTTACTACCAGCAACTGGGGAAAAAAAAGCAGCAGCAGCTTAAG GTTACTGTGTTTTGACTTTGGCATAAGCTTGGCAGAAGATGGTTTCAGGG CTGACTTGCCTTCCCTCCAAGCTTTCCACTTAAATTTCATTTCTGTCCTC TGCAGAACCTTTTCTTTTCATGCCAGGTCAGCTGTGTCTTTGTTTGTTTG TTTGTTTGTTTGTTTGTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCT GGAGTGCAGTGGCACGATCTTGGCTCACCACAACCTCCACCTCCCGGGTT CAAGTGATTCTCCTGT	CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	9/29			chr11	TogoVar
COL21A1_chr6_56051590_56252580	56098108	T T	TATATAAA others(885): Show TATATAAATATATATAAATATATAAATATATATAAATATATATAAATATA TAAATATATATAAATATATATAAATATAAAAATATATATAAATATATAAA TATATATAAATATATATGTAAATATATAAATATATATAAATATATATGTA AATATATAAATATATATAAATAAATATATATAAATATATATAAATATAAA TATATATATAAATATGTAATTATAAATATATATGTAAATATATATAAATA TAAATATATTTATAAATATATAAATATAAATATATTTATAAATATATAAA TATATATAAAAATATATATAAATATATAAAAAAATATAAATATATATAAA TATATAAATATATGTAAATATATATAAATATATATATAAATATATATAAA TATATATAAATATATATAAATATATATAAATATATATAAATATATAACTA TACAAATAAATATATATAAATATATAAATATATAAAAATATATATAAATA TATATGTAAATATATAAATATATATATAAATATATATAAATATATATAAG TATATAAATATATATAAATATATATAAGTATATAAATATATATATAAATA TATATAAGTATATAAATATATATATAAATATATATAAGTATATAAATATA TATAAATATATATAAGTATATAAATATATATATAAATATATATAAGTATA TATAAATATATATAAATATATATAAGTATATATAAATATATATAAATATA TATAAGTATATATAAATATATATAAATATATATAAGTATATATAAATATA TATAAATATATATAAGTATATATAAATATATATAAATATATATAAATATA TGCAAATATATATAAATATATATATAAATAGATATATAAATAG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0194 a0001c0002t0002g0195	2	197	0.0102	892	c.181 others(911): Show c.1812+3363_1812+3364insCTATTTATATATCTATTTATATATAT ATTTATATATATTTGCATATATTTATATATATTTATATATATTTATATAT ACTTATATATATTTATATATATTTATATATACTTATATATATTTATATAT ATTTATATATACTTATATATATTTATATATATTTATATATACTTATATAT ATTTATATATATTTATATATACTTATATATATTTATATATATATTTATAT ACTTATATATATTTATATATATTTATATACTTATATATATTTATATATAT ATTTATATACTTATATATATTTATATATATATTTATATACTTATATATAT TTATATATATTTATATACTTATATATATTTATATATATTTATATATATAT TTATATATTTACATATATATTTATATATATTTTTATATATTTATATATTT ATATATATTTATTTGTATAGTTATATATTTATATATATTTATATATATTT ATATATATTTATATATATTTATATATATTTATATATATATTTATATATAT TTACATATATTTATATATTTATATATATTTATATTTTTTTATATATTTAT ATATATTTTTATATATATTTATATATTTATAAATATATTTATATTTATAT ATTTATAAATATATTTATATTTATATATATTTACATATATATTTATAATT ACATATTTATATATATATTTATATTTATATATATTTATATATATTTATTT ATATATATTTATATATTTACATATATATTTATATATATTTATATATTTAC ATATATATTTATATATATTTATATATTTATATATATTTTTATATTTATAT ATATTTATATATATTTATATATTTATATATATTTATATATATTTATATAT TTATATATATTTATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
CRLF2_chrX_1185490_1217649	1198193	C C	CAGGACAC others(885): Show CAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCC ACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGG ACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCACCTCCCA GGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTC CCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTAGAAGGCAGGAC ACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCC CAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCC TCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTAGAAGGCAGG ACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCT CGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTC CCTCCCACCTCCTAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAA GGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACAGCCTCCCTCCCAC CTCCCGGGAAGATAGGACACCCTCCCTCCCACCTCCCGGGAAGACAGGAC ACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCACCTCCCAGG AAGGCAGGACACCCTCCCTCCCACCTCCTAGGAAGGCAGGACACCCTCCC TCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGG CAGGACACCCTCCCTCCCACCTCGAAGGCAGGACAGCCTCCCTCCCACCT CCCGGGAAGATAGGACACCCTCCCTCCCACCTCCCGGGAAGAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp1 NA18906.hp2 HG02257.hp2 HG02922.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0005 a0002c0004t0001 a0001c0002t0005 a0002c0004t0001	a0001c0002t0005g0026 a0002c0004t0001g0025 a0002c0004t0001g0028 a0001c0002t0005g0026 a0002c0004t0001g0025 a0002c0004t0001g0028	3	154	0.0195	892	c.646 others(907): Show c.646+368_646+369insATCTTCCCGGGAGGTGGGAGGGAGGGTGTC CTATCTTCCCGGGAGGTGGGAGGGAGGCTGTCCTGCCTTCGAGGTGGGAG GGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTC CTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTAGGAGGTGGGAGGGAG GGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGG TGGGAGGGAGGGTGTCCTGTCTTCCCGGGAGGTGGGAGGGAGGGTGTCCT ATCTTCCCGGGAGGTGGGAGGGAGGCTGTCCTGCCTTCGAGGTGGGAGGG AGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCT AGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGG TGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTG GGAGGGAGGGTGTCCTGCCTTCTAGGTGGGAGGGAGGGTGTCCTGCCTTC CTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTG TCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGG TGGGAGGGAGGGTGTCCTGCCTTCTAGGTGGGAGGGAGGGTGTCCTGCCT TCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGG TGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTG GGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGC CTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAG GGAGGGTGTCCT	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CTU2_chr16_88701503_88720396	88713126	T T	TGAGAGCC others(885): Show TGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCC CCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCC CCGGGTCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCT GACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATG CCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGC CCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCC CTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCC GGGCCCTGACCCCCACTCATACCTGAGAGCCCCCTTCCCCGGGCCCTGAC CCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACT CATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCC CTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	392	0.0026	892	c.738 others(907): Show c.738-176_738-175insTTCCCCGGGCCCTGACCCCCACTCATGCCC CTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCCTTCCCCGGGTCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCT GAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCC CCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCC CACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTG AGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATACCTGAGAGCCCCCTTCCCCG GGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCA CTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCC	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CYSLTR1_chrX_78266468_78332611	78269606	A A	AATACAGA others(885): Show AATACAGAACATATATTATATATAATATATATAAATACAGAATATATATT ATATATAATATATAAATATAGAATATATATTATATATAAATATAGAATAT ATATTATATATAATATTAAATATAGAATATATATTATATATTATATATAA ATATAGAATATATATTATATTATATATAAATATAGAATATATATTATATA TGATATATATAAATATAGAATATATATTATATATTATATATAATATAGAA TATAGAATATATATTATATATTATATATAATATATATTATATATAATATA GAATATAGAATATATATTATATATAATATAGAATATAGAATATATATTAT ATATAATATAGAATATAGAATATATATTATATATAATATAGAATATAGAA TATATATTATGTATATATAATATAGAATGTATATTCTATATTATATATAA TATAGAATATATAATATATTTATATATAATATAGAATATATTCTATATAA TATAGAATATATAACATATTATATATAAATATAATATATATTCTATATTT AATAGAATATATAATATACATTCTATATTTATCTAGAATATATAATATAT TCTATATAAATATGGAATATATATTATATATTCTATATAAATATGGAATA TATATTATATATTCTATATTTATATAGAATATATAATATATTCTATATAA TATATATTCTATATATATATAGAGTATATTCTATATATATATAGAATATA TATTATATATATAGAAAATATATTATATATTCTATATTTATATATAATAT ATATATTATATTCTATATTTATATAGAATATAAATATATAATATATAATA TTTGTATATGTACTATATATTATATAATATATATAATACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0007	1	57	0.0175	892	c.31 others(903): Show c.3126_*3127insATATGTATTATATATATTATATAATATATAGTAC ATATACAAATATTATATATTATATATTTATATTCTATATAAATATAGAAT ATAATATATATATTATATATAAATATAGAATATATAATATATTTTCTATA TATATAATATATATTCTATATATATATAGAATATACTCTATATATATATA GAATATATATTATATAGAATATATTATATATTCTATATAAATATAGAATA TATAATATATATTCCATATTTATATAGAATATATAATATATATTCCATAT TTATATAGAATATATTATATATTCTAGATAAATATAGAATGTATATTATA TATTCTATTAAATATAGAATATATATTATATTTATATATAATATGTTATA TATTCTATATTATATAGAATATATTCTATATTATATATAAATATATTATA TATTCTATATTATATATAATATAGAATATACATTCTATATTATATATACA TAATATATATTCTATATTCTATATTATATATAATATATATTCTATATTCT ATATTATATATAATATATATTCTATATTCTATATTATATATAATATATAT TCTATATTCTATATTATATATAATATATATTATATATAATATATAATATA TATTCTATATTCTATATTATATATAATATATAATATATATTCTATATTTA TATATATCATATATAATATATATTCTATATTTATATATAATATAATATAT ATTCTATATTTATATATAATATATAATATATATTCTATATTTAATATTAT ATATAATATATATTCTATATTTATATATAATATATATTCTATATTTATAT ATTATATATAATATATATTCTGTATTTATATATATTATATATAATATATG TTCTGTAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		1861		chrX	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(885): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGT CGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGT TGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAG GGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGG TGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGA GGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAG TTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	164	0.0061	892	c.-42 others(903): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGG GGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGT GAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DLGAP1_chr18_3491032_4460307	3618666	G G	GGGTGGCT others(885): Show GGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAG ATCACGAGGTCAGGAGTTTGATACCAGCCTGACCAACATGGTGAAACCCT GACTCTACTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGCGCCTGT AATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGA GGTGGAGGTTGCAGTGAGCCGATATTGTACCATTGCACTCCAACCTAGGC GACGGAGTGAGACTCTGTCTCAAAAAACAAAACAAACAAGCAAAAAACAA ACAAACAAAACAGGCAGTTTTGGGTTGTGGGGCACACTTTTTTTTTTTTT TTTTTCTGAGATGGGAGTCTCACTCCGTCACCCAGGCTGGAGCGCAGTGG CGCGATCTCGGCTCACTGCAAGCTCCGTCTCCCGGGTTCAAGCGATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCC CAGCTAATTTTTTGTTTTTCTGTTTTCAGTACAGACAGGGTTTCACCGTG TTAGCCAGGATGGTCTTGATCTCCTAACCTCCTGATCTGCTCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCTCGGCCCCCAG AGCACACTTTTAAAGTTAACAGCTTGGCCTCCCTCTCCCAGCATTCATCC TCACTGGGCCTAGTCCGCCTGTTACACCAGGGAAGAACTGAGTGATCTTT CTTAACTTCCCAGGATCTTAGCCCAATGCTATGGCCACTTGTGTCCCCCA CCCCCCCAACAAATGCATATGTTGAAGTCCTAACTCTCAGAATGTAACTG TCTTGAGAGATAGGGTCTTTAAAGAGATGATTAGGCCAGGGGT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	2	0.5000	892	c.159 others(913): Show c.1592-36419_1592-36418insACCCCTGGCCTAATCATCTCTTTA AAGACCCTATCTCTCAAGACAGTTACATTCTGAGAGTTAGGACTTCAACA TATGCATTTGTTGGGGGGGTGGGGGACACAAGTGGCCATAGCATTGGGCT AAGATCCTGGGAAGTTAAGAAAGATCACTCAGTTCTTCCCTGGTGTAACA GGCGGACTAGGCCCAGTGAGGATGAATGCTGGGAGAGGGAGGCCAAGCTG TTAACTTTAAAAGTGTGCTCTGGGGGCCGAGCGCGGTGGCTCATGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCAGGAGGTTAGGAGA TCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTGTACTGAAAACAG AAAAACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCGCTCCAGCCTGGGTGACGGAGTGA GACTCCCATCTCAGAAAAAAAAAAAAAAAAAAGTGTGCCCCACAACCCAA AACTGCCTGTTTTGTTTGTTTGTTTTTTGCTTGTTTGTTTTGTTTTTTGA GACAGAGTCTCACTCCGTCGCCTAGGTTGGAGTGCAATGGTACAATATCG GCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGC CTCCTGAGTAGCTGGGATTACAGGCGCACACCACCAAGCCCGGCTAATTT TTGTATTTTTAGTAGAGTCAGGGTTTCACCATGTTGGTCAGGCTGGTATC AAACTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACC	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	3618666	G G	GGGTGGCT others(885): Show GGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAG ATCACGAGGTCAGGAGTTTGATACCAGCCTGACCAACATGGTGAAACCCT GACTCTACTAAAAATACAAAAATTAGCCGGGCTTGGTGGTGTGCGCCTGT AATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGA GGTGGAGGTTGCAGTGAGCCGATATTGTACCATTGCACTCCAACCTAGGC GACGGAGTGAGACTCTGTCTCAAAAAACAAAACAAACAAGCAAAAAACAA ACAAACAAAACAGGCAGTTTTGGGTTGTGGGGCACACTTTTTTTTTTTTT TTTTTCTGAGATGGGAGTCTCACTCCGTCACCCAGGCTGGAGCGCAGTGG CGCGATCTCGGCTCACTGCAAGCTCCGTCTCCCGGGTTCAAGCGATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCC CAGCTAATTTTTTGTTTTTCTGTTTTCAGTACAGACAGGGTTTCACCGTG TTAGCCAGGATGGTCTTGATCTCCTAACCTCCTGATCTGCTCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCTCGGCCCCCAG AGCACACTTTTAAAGTTAACAGCTTGGCCTCCCTCTCCCAGCATTCATCC TCACTGGGCCTAGTCCGCCTGTTACACCAGGGAAGAACTGAGTGATCTTT CTTAACTTCCCAGGATCTTAGCCCAATGCTATGGCCACTTGTGTCCCCCA CCCCCCCAACAAATGCATATGTTGAAGTCCTAACTCTCAGAATGTAACTG TCTTGAGAGATAGGGTCTTTAAAGAGATGATTGGGCCAGGGGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0038 a0001c0005t0005g0038	1	2	0.5000	892	c.159 others(913): Show c.1592-36419_1592-36418insACCCCTGGCCCAATCATCTCTTTA AAGACCCTATCTCTCAAGACAGTTACATTCTGAGAGTTAGGACTTCAACA TATGCATTTGTTGGGGGGGTGGGGGACACAAGTGGCCATAGCATTGGGCT AAGATCCTGGGAAGTTAAGAAAGATCACTCAGTTCTTCCCTGGTGTAACA GGCGGACTAGGCCCAGTGAGGATGAATGCTGGGAGAGGGAGGCCAAGCTG TTAACTTTAAAAGTGTGCTCTGGGGGCCGAGCGCGGTGGCTCATGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCAGGAGGTTAGGAGA TCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTGTACTGAAAACAG AAAAACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCGCTCCAGCCTGGGTGACGGAGTGA GACTCCCATCTCAGAAAAAAAAAAAAAAAAAAGTGTGCCCCACAACCCAA AACTGCCTGTTTTGTTTGTTTGTTTTTTGCTTGTTTGTTTTGTTTTTTGA GACAGAGTCTCACTCCGTCGCCTAGGTTGGAGTGCAATGGTACAATATCG GCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGC CTCCTGAGTAGCTGGGATTACAGGCGCACACCACCAAGCCCGGCTAATTT TTGTATTTTTAGTAGAGTCAGGGTTTCACCATGTTGGTCAGGCTGGTATC AAACTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACC	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	7/12			chr18	TogoVar
FBXL14_chr12_1560993_1599581	1574377	G G	GGTGTGGG others(885): Show GGTGTGGGTGGAGGCTGGGGTAAGAGGAGGCTGGTGGCAGCGGTGTGGAT GGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCACTGTGGATGGAGGCTGGG GTGAGGGGAGGCTGGTGGCAGCCGTGTGGGTGGAGGCTGGGGTGAGGGGA GGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGGAGGCTGGGGT GGGGGAGGCTGGTGGCAGCAGTGTGGATGGAGGCTGGGGTGAGAGGAGGC TGGTGGCAGCAGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGGGTGGG GGAGGCTGGTGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGAGGCT GGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGC AGCGGTGTGGGTGGAGGCTGGGTGAGGGGAGGCTGGTGGCAGTGGTGTGG GTGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCT GGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGGGG GGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTAGGGGAGGCTGGC GGCAGCAGCGGTGTGGGCGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGC GGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGCAGCAGCGGTGTGGGT GGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGG GGTGGGGGAGGCTGGCGGCAGCAGTGTGGATGGAGGCTGGGGTGAGGGGA GGCTGGTGGCAGCAGTGTGGGTGGAGGCTGGGTGAGGAGGCTGGTGGCAG CGGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	96	0.0104	892	c.119 others(911): Show c.1195-7568_1195-7567insTGCTGCCACCAGCCTCCCCTCACCCC AGCCTCCATCCACACCGCTGCCACCAGCCTCCTCACCCAGCCTCCACCCA CACTGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCATCCACACTGCTGC CGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTC CCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCAGCCTCCCCTCACCC CAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCG CCCACACCGCTGCTGCCGCCAGCCTCCCCTACCCCAGCCTCCATCCACAC CGCTGCCACCAGCCTCCCCCCACCCCAGCCTCCACCCACACCGCTGCCAC CAGCCTCCCCCCACCCCAGCCTCCACCCACACCGCTGCCACCAGCCTCCC CCCACCCCAGCCTCCACCCACACCACTGCCACCAGCCTCCCCTCACCCAG CCTCCACCCACACCGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCACCC ACACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCACCCACACCGC TGCTGCCACCAGCCTCCCCCACCCCAGCCTCCCCTCACCCCAGCCTCCAC CCACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCTCCATCCACACTGC TGCCACCAGCCTCCCCCACCCCAGCCTCCACCCACACTGCTGCCACCAGC CTCCTCTCACCCCAGCCTCCCCTCACCCCAGCCTCCACCCACACGGCTGC CACCAGCCTCCCCTCACCCCAGCCTCCATCCACAGTGCTGCCGCCAGCCT CCCCCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCTCTTACCC CAGCCTCCACCCACAC	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
FLT4_chr5_180596506_180654600	180635721	A A	AAGTATGG others(885): Show AAGTATGGGTGGATGGGTGGGTGGACGGATGGATGGATGGAAGTATGGGT GGATGGGTGGGTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGATGG GTGGGTGGACGGATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGT GGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGG ATGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGACGGAT GGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGATGCATGGATGG ATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGGAT GCATGGAAGTATGGGTGGATGGGTGGGTGAGTGGGTGGATGGAAGTATGG GTGGATGGGTGGGTGGATGGGTGGATGGATGCATGTATGGAAGTATGGAT GGATGAGTGGATGGGTGGGTGGGTGGATGCATAGATGGATGGAAGTATGG GTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGGATGGAAGTAAGGGT GGATGGGTGGATGGGTGGGTGAGTGGGTGGATGCATGGATGGATGGAAGT ATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGGATGGAAGTAA GGGTGGATGGGTGGATGGGTGGGTGAGTGGGTGGATGCATGGATGGATGG AAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGGATGGAA GTAAGGGTGGATGGGTGGATGGGTGGGTGAGTGGGTGGATGCATGGATGG ATGGAAGTATGGGTGGATGGGTGGATGGGTGGGTGGGTAGGTGGATGGAT GCATGGATTGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02965.hp2 HG02970.hp2 others(3): Show HG02809.hp2 HG02965.hp2 HG02970.hp2 HG03139.hp1 HG03486.hp2 NA20129.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0003 a0002c0012 others(1): Show a0001c0001 a0002c0003 a0002c0012 a0007c0033	a0001c0001t0002 a0002c0003t0001 a0002c0003t0007 others(2): Show a0001c0001t0002 a0002c0003t0001 a0002c0003t0007 a0002c0012t0021 a0007c0033t0009	a0001c0001t0002g0370 a0001c0001t0002g0371 a0002c0003t0001g0316 others(3): Show a0001c0001t0002g0370 a0001c0001t0002g0371 a0002c0003t0001g0316 a0002c0003t0007g0372 a0002c0012t0021g0175 a0007c0033t0009g0375	6	41	0.1463	892	c.59- others(907): Show c.59-3944_59-3943insCCCACCCACCCACCCACCCATCCACCCATA CTTCAATCCATGCATCCATCCACCTACCCACCCACCCATCCACCCATCCA CCCATACTTCCATCCATCCATGCATCCACCCACTCACCCACCCATCCACC CATCCACCCTTACTTCCATCCATGCATCCATCCACCCACCCACCCACCCA TCCACCCATACTTCCATCCATCCATGCATCCACCCACTCACCCACCCATC CACCCATCCACCCTTACTTCCATCCATGCATCCATCCACCCACCCACCCA CCCATCCACCCATACTTCCATCCATCCATGCATCCACCCACTCACCCACC CATCCACCCATCCACCCTTACTTCCATCCATGCATCCATCCACCCACCCA CCCACCCATCCACCCATACTTCCATCCATCTATGCATCCACCCACCCACC CATCCACTCATCCATCCATACTTCCATACATGCATCCATCCACCCATCCA CCCACCCATCCACCCATACTTCCATCCACCCACTCACCCACCCATCCACC CATACTTCCATGCATCCATGCATCCATCCACCCACCCACCCACCCATCCA CCCATACTTCCATCCATCCATGCATCCACCCACCCACCCATCCACCCATA CTTCCATCCATCCATCCGTCCACCCACCCATCCACCCATACTTCCATCCA TCCATGCATCCATCCACCCACCCACCCACCCATCCACCCATACTTCCATC CATCCATGCATCCACCCACCCACCCATCCACCCATACTTCCATCCATCCA TCCGTCCACCCACCCATCCACCCATACTTCCATCCATCCATGCATCCACC CACCCACCCATCCACCCATACTTCCATCCATCCATCCGTCCACCCACCCA TCCACCCATACT	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
GALNT9_chr12_132191372_132334589	132242051	A A	ATTACACA others(885): Show ATTACACACACAACACACACTTCCCGGGGCCCTCCCTATACCCATTACAC ACACAACACACCCTTCCAGGGGCCCTCCCTATCCCCATTACACACACGCC ACACCCCCTTCCAGGGGCCCTCCCTATACCCATTTACACACACGCCACAC CCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACACACACTTC CCGGGGCCCTCCCTATACCCATTACACACACAACACACCCTTCCAGGGGC CCTCCCTATCCCCATTACACACACGCCACACCCCCTTCCAGGGGCCCTCC CTATACCCATTACACACACAACACACACTTCCCGGGGCCCTCCCTATACC CATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATCCCCATTA CACACACGCCACACCCCCTTCCCGGGGCCCCCCCTATACCCATTACACAC ACACCACACACCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCC ACACACCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACACA CCCTTCCCAGGGCCGTCCCTATACCCATTACACACACAACACACACCCTT CCCGGGGCCCTCCCTATACACATTACACACACACCACACCCCCTTCCCAG GGCCCTCCCTATCCCCATTACACACACACCACACCCCCTTCCCAGGGCCC TCCCTATCCCCATTACACACACAACACACACCCTTCCCAGGGCCCTCCCT ATCCCCATTACACACACAACACACACCCTTCCCGGGGCCCTCCCTATACA CATTACACACACGCCACACCCCCTTCCCAGGGCCCTCCCTATCCCCATTA CACACACACCACACCCCCTTCCCGGGGCCCTCCCTATACCCAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0097 a0001c0006t0001g0097	1	172	0.0058	892	c.107 others(911): Show c.1077+5858_1077+5859insATGGGTATAGGGAGGGCCCCGGGAAG GGGGTGTGGTGTGTGTGTAATGGGGATAGGGAGGGCCCTGGGAAGGGGGT GTGGCGTGTGTGTAATGTGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTT GTGTGTGTAATGGGGATAGGGAGGGCCCTGGGAAGGGTGTGTGTTGTGTG TGTAATGGGGATAGGGAGGGCCCTGGGAAGGGGGTGTGGTGTGTGTGTAA TGGGGATAGGGAGGGCCCTGGGAAGGGGGTGTGGTGTGTGTGTAATGTGT ATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGG GACGGCCCTGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGG CCCCTGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCT GGAAGGGTGTGTGGTGTGTGTGTAATGGGTATAGGGGGGGCCCCGGGAAG GGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGGCCCCGGGAAGGGGGT GTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGTGTGTGTTGT GTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTGGCGTGTGTG TAATGGGGATAGGGAGGGCCCCTGGAAGGGTGTGTTGTGTGTGTAATGGG TATAGGGAGGGCCCCGGGAAGTGTGTGTTGTGTGTGTAATGGGTATAGGG AGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAAATGGGTATAGGGAGGG CCCCTGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGGCCCCT GGAAGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGTG TGTGTTGTGTGTGTAA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GTPBP6_chrX_299759_323796	316177	C C	CACACAGA others(885): Show CACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAA ACACATACATACGCAGACACACACACACACACACACACTAAATACATCCC GACAGGGACAGACACAGACACACACACAGAGACACACACAAACACAGTAA ACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACAC ACACACACACAAACACACAGTAAATACCTCCCGACAGGGACAGACACACA CACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCCCG GCAGGGACACAAACACATACACACGCAGACACACACACACACACACACAC ACAAACACACAGTAAATACATCCCGACAGGGACAGACACACACACAGAGA CACACACAAACACAGTAAACACATCCCGGCAGGAACACAAACACATACAT ACGCAGACACACACACACACACACACACACTAAATACATCCCGACAGGGA CAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATCC CAGCAGGGACACAAACACATACACACGCAGACACACACACACACACACAC ACACACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACA CAGAGACACACACAAACACAGTAAACACATCCCGGCAGGGACACAAACAC ATACACACGCAGACACACACACACACACACACACACACACAGTAAATACA TCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACACA GTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACAC ACACACACACACACACACAGTAAATACATCCCGACAGGGACAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0004 a0015c0018t0004	a0015c0018t0004g0080 a0015c0018t0004g0080	1	46	0.0217	892	c.487 others(907): Show c.487+736_487+737insCTGTCCCTGTCGGGATGTATTTACTGTGTG TGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCC GGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCT GTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTGTGTGTG TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT GTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTT ACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTT TGTGTCCCTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGT GTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTG TGTGTGTCTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACT GTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTT ACTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTG TTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGT GTGTGTCTGTGTGTGTGTGTCTGTCCCTGTCGGGAGGTATTTACTGTGTG TTTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCC TGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT GTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTCTG CGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGT GTGTCTCTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	322499	A A	AAAAAAAA others(885): Show AAAAAAAAAAAAAAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGT GCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGC CCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC AAAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTGG TCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGT TTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAA AAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCC TGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCA GGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAA AAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTG CCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCC CAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTATCTACA AAAAAAAAAAAAAAAGAAAAAAAATTAGCCGGGCGTGGTGGTGGGTGCCT GTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAG GAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAA AAAAAAAAAAAAAGAAAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTG GTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG TTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0082 a0003c0004t0002g0082	1	104	0.0096	892	c.-37 others(903): Show c.-3713_-3712insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTTCTTTT TTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGC GTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGC TGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTTTCTTTTTT TTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGCGTC AAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGG GACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTTTTTTTT TTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGCTGGCG TCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCT GGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTTTTTT TTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGC TGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAG CAGCTGGGACCACAGGAACCCACCACCACGCCCGGCTTTTCTTTTTTTTT TTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCA AACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGG ACCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTTTTT TTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3704		chrX	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406452	A A	AGTCTTCC others(885): Show AGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTCACTG AGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTG TCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTG TGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTC AGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAG GCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTT CCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCT CGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	143	0.0070	892	c.38 others(901): Show c.381_*382insGAGATGTCACAGAGGTCCACTCAGTGACAAACACAC ACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACAA ACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAG TGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCC ACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAG AGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACTAGATG TCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGAC GAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAG GAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGG CCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACAC TGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAAC ACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTG ACAAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAGGTCCAC TCAGTGACAAACACACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGAG GTCCACTCAGTGACACACACTGAAGGCCTGAGGAAGCCTAGATGTCACAG AGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATG TCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGAC GAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAG GAAGAC	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	381		chr2	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(885): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTC CCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGC CGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCA CAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCC CCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCA CCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGC CACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCAC AGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA18747.hp1 NA18939.hp1 others(2): Show HG01943.hp2 NA18747.hp1 NA18939.hp1 NA18964.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0255 others(2): Show a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0255 a0001c0001t0001g0271 a0001c0001t0001g0277	5	9	0.5556	892	c.-41 others(907): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCT CCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACC CCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAG CCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCA CAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCC ACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(885): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGGGGGGTGATGACGGTGATGATGGGGGTGGTGAT GGTGGGGGTGGGGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGG TGATGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTG ATGGTGGGGGTGATGACGGTGGGGCTGGGGGTGATGACGGTAGGGGTGAT GACGGTGATGATGGGGGTGGGGGGGTGATGACGGTGATGTGGGGGTGATG ACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGATGACGGTGATGTGGGG GTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGATGACGGTGAT GATGGGGGTGGGGGGGTGATGACGGTGATGTGGGGGTGATGACGGTGGGG GTGGGGGTGATGACGGTGGGGGTGATGACGGTGATGTGGGGGTGATGACG GTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGATGGTGATGGT GGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTGAGGGTGGTGGGGG TGGGGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGGGG GTGATGATGGTGATGGTAGGGGTGATGATGGTGGGGGTGGGGGTGGGGGT GGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGATGGTGATGGTAG GGGTGATGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGACG GTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGACGGTGG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01074.hp1 HG01071.hp2 HG01074.hp1	a0034 a0035 a0034 a0035	a0034c0037 a0035c0038 a0034c0037 a0035c0038	a0034c0037t0001 a0035c0038t0001 a0034c0037t0001 a0035c0038t0001	a0034c0037t0001g0173 a0035c0038t0001g0172 a0034c0037t0001g0173 a0035c0038t0001g0172	2	32	0.0625	892	c.956 others(909): Show c.956+1962_956+1963insCCACCGTCATCACCCCCACCCCCACCCC CACCCCCACCCCCACCGTCATCACCCTCACCCCCACCCCCACCCCCACCC CCACCATCATCACCCCTACCATCACCATCATCACCCCCACCCCCACCGTC ATCACCCCCACCCCCACCCCCACCCCCACCCCCACCATCATCACCCCTAC CATCACCATCATCACCCCCACCCCCACCCCCACCATCACCCCCACCATCA TCACCCTCACCCCCACCCCCACCACCCTCACCATCATCACCCCCACCCCC ACCATCATCACCCCCACCATCACCATCATCACCCCCACCCCCACCGTCAT CACCCCCACCCCCACCGTCATCACCCCCACATCACCGTCATCACCCCCAC CGTCATCACCCCCACCCCCACCGTCATCACCCCCACATCACCGTCATCAC CCCCCCACCCCCATCATCACCGTCATCACCCCCACCGTCATCACCCCCAC CCCCACCGTCATCACCCCCACATCACCGTCATCACCCCCACCGTCATCAC CCCCACCCCCACCGTCATCACCCCCACATCACCGTCATCACCCCCCCACC CCCATCATCACCGTCATCACCCCTACCGTCATCACCCCCAGCCCCACCGT CATCACCCCCACCATCACCATCATCACCCCCACCCCCACCATCACCACCC CCACCCCCACCATCACCACCCCCACCATCACCGTCATCACCCCCACCCCC ACCCCCACCCCCACCATCACCACCCCCATCATCACCGTCATCACCCCCCC ACCCCCATCATCACCGTCATCACCCCCACCATCATCACCCCCAGCCCCAC CGTCATCACCCCCACCATCACCATCATCACCCCCACCCCCACCATCACCA CCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(885): Show TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATATCCATATATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATATCCATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATCCATATATATATCCATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATCCATATATATATATATCCATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATCCATATATA TATATATCCATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0224 a0002c0002t0002g0224	1	207	0.0048	892	c.126 others(909): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATGGATATATATATATATGGATATATATATGGATATATATATATAT GGATATATATATATGGATATATATATATATGGATATATATATGGATATAT ATATATATGGATATATATATGGATATATATATATATGGATATATATATAT GGATATATATATATATGGATATATATATATGGATATATATATATGGATAT ATATATATATGGATATATATATATGGATATATATATGGATATATATATGG ATATATATATATGGATATATATATATGGATATATATATATGGATATATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT GGATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATGGATATATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATGGATATATATATATATGGATATATATATATATGGATAT ATATATATATGGATATATATATATATGGATATATATATATGGATATATAT ATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LDLRAD3_chr11_35939062_36237136	36055104	T T	TGCATAGA others(885): Show TGCATAGAGGGATAGTTGGATGAATGGATGGATGGATAGATGGATGGATG GATGGGTGGATGAATGGATGGATGGATGCATGGATGGATGGATGGATGGT TGGATGAATGGATGGATGGGTGCATGGATGGATAGATGGATGGATGGATG GATGAATGGATGGATGGGTGCATGGATGGATAGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGCATGGATGGATGGACGATGGATAC ATGGATGCATGGATGGATGGATGCATGGATGGATGGATGATGGATACATG GATGCATGGATGGATGGTTGGATGGATGGATGCATGGATGCATGGATGGA TGGATGCATGGGTGGATGGATGCATGGATGGATGGATGGATGGATGGATG GATAAATGGATGCATGGATGCATGGATGGATGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATAGATGCATGGATGGATGGATGAATGGATG GATGGATGGATGGATGGATAGATGGATGAATGGATGAATGGATGAATGGA TGGATGAGTAGGTGGAAGGGTAGATAGATAGATGGGTGGGTCAGTGGATG GATGGATAGTTGGGTGGTTGAGTAGGTGGATGGATGAATGGGTAGATTTA TGGGCCGATGTGTAAAGACAGAGGTCTCTCATTCCACAACCACATGTCCT ACTGGAAGCCTTCTCTCCCTTCCTATCCAGGCTAGGTAGATGCCCCTTGT CCCTGCTCCCATAGCATTGCCTCTCTCTACATTTGACTTGTAAACAAGAA GATACAGTAAACTGTTATAGTTTTCATTTTCCAAGGAATCAGATGCTTCA GTACAGCCAGGAAAAGGTCTGATACACCTTGTTCACTGTTATC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0077 a0001c0002t0004g0077	1	16	0.0625	892	c.193 others(911): Show c.193+18855_193+18856insGCATAGAGGGATAGTTGGATGAATGG ATGGATGGATAGATGGATGGATGGATGGGTGGATGAATGGATGGATGGAT GCATGGATGGATGGATGGATGGTTGGATGAATGGATGGATGGGTGCATGG ATGGATAGATGGATGGATGGATGGATGAATGGATGGATGGGTGCATGGAT GGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGC ATGGATGGATGGACGATGGATACATGGATGCATGGATGGATGGATGCATG GATGGATGGATGATGGATACATGGATGCATGGATGGATGGTTGGATGGAT GGATGCATGGATGCATGGATGGATGGATGCATGGGTGGATGGATGCATGG ATGGATGGATGGATGGATGGATGGATAAATGGATGCATGGATGCATGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGC ATGGATGGATGGATGAATGGATGGATGGATGGATGGATGGATAGATGGAT GAATGGATGAATGGATGAATGGATGGATGAGTAGGTGGAAGGGTAGATAG ATAGATGGGTGGGTCAGTGGATGGATGGATAGTTGGGTGGTTGAGTAGGT GGATGGATGAATGGGTAGATTTATGGGCCGATGTGTAAAGACAGAGGTCT CTCATTCCACAACCACATGTCCTACTGGAAGCCTTCTCTCCCTTCCTATC CAGGCTAGGTAGATGCCCCTTGTCCCTGCTCCCATAGCATTGCCTCTCTC TACATTTGACTTGTAAACAAGAAGATACAGTAAACTGTTATAGTTTTCAT TTTCCAAGGAATCAGATGCTTCAGTACAGCCAGGAAAAGGTCTGATACAC CTTGTTCACTGTTATC	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	2/5			chr11	TogoVar
LMF1_chr16_848634_975984	859094	G G	GGACGGGT others(885): Show GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTG TGAGTGGTGTCTCGGGACGGGTGTGCAGTGTTGTCACGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTG GTGTCTCGGGAGGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCAGGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGA CGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGA GTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGT GGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAGTGAT GTCACGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCT CGGGATGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGG ACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGAC GGGTGTGAGTGATGTCACGGGACGGGTGTGAGTGGTGTCTCGA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0073 a0001c0006t0001g0073	1	185	0.0054	892	c.153 others(911): Show c.1530-4389_1530-4388insTCGAGACACCACTCACACCCGTCCCG TGACATCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGA CACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACAC CACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGACACCACT CACACCCATCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCAC ACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACAC CCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCAT CCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT GCACACCCGTCCCCTGACACCACTCACACCCGTCCCGAGACACCACTGCA CACCCCTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTCACAC CCGTCCCGAGACACCACTCACACCCGTCCCGTGACAACACTGCACACCCG TCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCC GTGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAG ACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACA CCACTGCACACCCGTC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LORICRIN_chr1_153254687_153267124	153256713	A A	AGTCACAT others(885): Show AGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACT ATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATAT AAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATAT GTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTAAATATAGTCATATATGTATATAAAACTATAT ATAGTTATATGTATATAAAACTATATATAGTTATATGTATATAAAACTAT ATATAGTTATATGTATATAAAACTATAGTCATATATGTATATAAAACTAT ATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAA AACTATATACAGTCATATATGTATATAAAACTATATAGTCATATATGTAT ATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATAT ATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAG TCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTAT ATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAA AACTATATAGTTATATATGTATATAAAACTATATAGTTATATATGTATAT AAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAA AACTATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAA CTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACT ATAGTTATATATGTAAAACTATAGTTATATATGTATGTAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	1	374	0.0027	892	c.-30 others(903): Show c.-3044_-3043insGTCACATATGTATATAAAACTATATATAGTCACA TATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATA GTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTA TATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATA AAACTATATATAGTCACATATGTATATAAAACTAAATATAGTCATATATG TATATAAAACTATATATAGTTATATGTATATAAAACTATATATAGTTATA TGTATATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATATA TGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAAC TATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATA TAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATA TGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGT CATATATGTATATAAAACTATATAGTTATATATGTATATAAAACTATATA GTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGT TATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTA TATATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATA TATGTATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATGTA TGTAAAAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2973		chr1	TogoVar
LRP8_chr1_53237364_53333070	53284196	T T	TACTTACC others(885): Show TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCC GGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0123 a0002c0002t0001g0123	1	219	0.0046	892	c.368 others(909): Show c.368-3482_368-3481insGGCCCGGGTATGTAGTAGGTAAGTAAGC GGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAA GTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGT AGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTA TGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCC CGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAA GCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGT AAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTA GTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGG TATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGG CCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGT AAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAG GTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATG TAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCG GGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGC GGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAA GTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGT AGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTA TGTAGTAGGTAAGT	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364368	T T	TACACCCA others(885): Show TACACCCACGCTTACATCTACCTCCACACCCACACTCACACGCACCCACA CTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCA CACTTACACCCACACTTACATCTACCTCCACACCCACACTCACACCCACC CTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCA CACTTACATCTACCTCCACACCCACACTCACACCCACCCTTACATCTACC TCCACACCCACACTCACACCCACCCACACTTACACCCACACTTACATCTA CCTCCACACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACA CTTACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCA CACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACC CACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCA CCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTCACACC CACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACA CCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTCA CACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACGCT TACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACA CTCACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCA CACTCACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACC CACACTTACACCCACCCTTACATCTACCTCCACACCCACACTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0071 a0001c0001t0029g0071	1	220	0.0045	892	c.129 others(911): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TCACACGCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCAC ACTTACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCC ACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACACTTACATCTACCTCCACACCCACACTCACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACACTTACATCTACCTCCACACCCACACTTACACCCACCCTTACATCT ACCTCCACACCCACACTTACACCCACCCACACTTACACCCACACTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTTACACCCACACTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTTACACCCACACTTACATCTACCT CCACACCCACACTCACACCCACCCACACTTACACCCACACTTACATCTAC CTCCACACCCACGCTTACACCCACCCACACTTACACCCACCCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACACTTACAT CTACCTCCACACCCACACTCACACCCACGCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTCACACCCAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364477	C C	CCACCCTT others(885): Show CCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACGCTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTT ACATCTACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTCACACCCACCCTTACATCTACCTCC ACACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCT CCACACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAATT ACACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TCACACCCACCCACACTCACACCCACCCACACTTACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCACCC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCAC CCTTACATCTACCTCCACACCCACACTTACACCCACGCTTACATCTACCT CCACACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0055 a0001c0002t0055	a0001c0002t0055g0262 a0001c0002t0055g0262	1	215	0.0047	892	c.129 others(909): Show c.1290-942_1290-941insTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTC ACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCC TTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCCAC CCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACACTTACACCCACGCTTACATCTAC CTCCACACCCACAATTACACCCACACTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTCACACCCACCCACACTCACACCCACCCACACTT ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCC ACGCTTACATCTACCTCCACACCCACACTTACACCCACCCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTCACACCCACCCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACAT CTACCTCCACACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MADCAM1_chr19_491486_510343	496853	G G	GGGGGCGC others(885): Show GGGGGCGCAGGAGAGAGCAGGGGGCGCAGGAGAGAGGAGGGGGCGCGGGA GAGGGGAGGAGGCGCGGGAGAGGGGAGGGGGCTCGGGGGAGAGGAAGGGG CGCGGTGAGCGGGGAGGGGACGCGGGAGAGAGGAGGGAGTTAGGAGGGGG CTCAGGAGAGGGGAGGGGGCTCAGTAGAGTGGGGGGGCTCAGGAGAGAGG AGGGACGCAGGGGAGAGGAGGGGCGCAGGGGAGAGGAGGGGCGCAGGAGA GAGGAGGGGGCGCAGGAGAGTGGAGGGGGCGCGGGAGAGAGGAGGGGGCG CGGGAGAGGGGAGGGGGCTCGGGGGAGAGGAAGGGGCGCGGTGAGCGGGG AGGGGACGCGGGAGAGAGGAGGGAGTTAGGAGGGGGCTCAGGAGAGGGGA GGGGGCTCAGTAGAGTGGGGTGGCTCAGGAGAGAGGAGGGACGCAGGAGA GAGGAGGGGCGCAGGGGAGAGGAGGGGGCGCAGGAGAGTGGAGGGGGCTC AGGAGAGAGAAGGGGCGCAGGAGAGAGGAGGGGCGCGGAGGGGAGGGGGC GCAGGAGAGAGCAGGGGGCGCAGTAAAGTGAAGAGGACTCAGGAGAGAGG AGGGGGCGCGGGAGAGGGGAGGGGGTTTGGAAGAGAAGGGGGGCTCGGGA GAGGGGAGGGGGCTCGGGAGAGGGGAGGGGGTTCGGAAGAGAAGGGGGGC CCGGGAGAGGGGAGGGGGCCCGGGAGAGGGGAGGGGGCTCGGGGGAGAGG AAGGGGCGCGGTGAGCGGGGAGGGGACGCGGGAGAGAGGAGGGAGTTAGG AGGGGGCTCAGGAGAGGGGAGGGGGCTCAGTAGAGTGGGGGGGCTCAGGA GAGAGGAGGGACGCAGGAGAGAGGAGGGGCGCAGGGGAGAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp2 HG03195.hp1 others(1): Show HG01243.hp1 HG02257.hp2 HG03195.hp1 HG03540.hp1	a0013 a0014 a0013 a0014	a0013c0022 a0014c0026 a0013c0022 a0014c0026	a0013c0022t0001 a0014c0026t0001 a0013c0022t0001 a0014c0026t0001	a0013c0022t0001g0044 a0014c0026t0001g0261 a0014c0026t0001g0262 a0013c0022t0001g0044 a0014c0026t0001g0261 a0014c0026t0001g0262	4	112	0.0357	892	c.52+ others(905): Show c.52+318_52+319insCAGGGGGCGCAGGAGAGAGGAGGGGGCGCGGG AGAGGGGAGGAGGCGCGGGAGAGGGGAGGGGGCTCGGGGGAGAGGAAGGG GCGCGGTGAGCGGGGAGGGGACGCGGGAGAGAGGAGGGAGTTAGGAGGGG GCTCAGGAGAGGGGAGGGGGCTCAGTAGAGTGGGGGGGCTCAGGAGAGAG GAGGGACGCAGGGGAGAGGAGGGGCGCAGGGGAGAGGAGGGGCGCAGGAG AGAGGAGGGGGCGCAGGAGAGTGGAGGGGGCGCGGGAGAGAGGAGGGGGC GCGGGAGAGGGGAGGGGGCTCGGGGGAGAGGAAGGGGCGCGGTGAGCGGG GAGGGGACGCGGGAGAGAGGAGGGAGTTAGGAGGGGGCTCAGGAGAGGGG AGGGGGCTCAGTAGAGTGGGGTGGCTCAGGAGAGAGGAGGGACGCAGGAG AGAGGAGGGGCGCAGGGGAGAGGAGGGGGCGCAGGAGAGTGGAGGGGGCT CAGGAGAGAGAAGGGGCGCAGGAGAGAGGAGGGGCGCGGAGGGGAGGGGG CGCAGGAGAGAGCAGGGGGCGCAGTAAAGTGAAGAGGACTCAGGAGAGAG GAGGGGGCGCGGGAGAGGGGAGGGGGTTTGGAAGAGAAGGGGGGCTCGGG AGAGGGGAGGGGGCTCGGGAGAGGGGAGGGGGTTCGGAAGAGAAGGGGGG CCCGGGAGAGGGGAGGGGGCCCGGGAGAGGGGAGGGGGCTCGGGGGAGAG GAAGGGGCGCGGTGAGCGGGGAGGGGACGCGGGAGAGAGGAGGGAGTTAG GAGGGGGCTCAGGAGAGGGGAGGGGGCTCAGTAGAGTGGGGGGGCTCAGG AGAGAGGAGGGACGCAGGAGAGAGGAGGGGCGCAGGGGAGAGGAGGGGCG CAGGAGAGAG	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCCCCC others(885): Show CCTCCCCCTCTCCCTCTCCATCACCCCCTCTCCATCACCCTCCCTTCTCT CCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCC CTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCC CCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCC CTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTC ACTCCCCCCTCCCTCTCCCCCTTCCCCCTCTCCCCTTCCCCTCCCCCTCT TCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGC TCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTT CCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCAT CCCCCTCCCCATCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTC TCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCC TCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTTCCC CCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCC CTCCCCCACTCTCCTCCCCCACTCCCATCCCCATCTCCCCCTCCCCATCT CCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTGCCTCCC CATCTCCCCCTCCTCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTCCCT CCCCCTCTCCCCCTCTCCCCCCTTCTCTCCCACCCCTCCCCACTCTCCCT CCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03139.hp1 HG03471.hp1 others(1): Show HG02630.hp2 HG03139.hp1 HG03471.hp1 HG03516.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0003 a0012c0021 a0001c0001 a0002c0003 a0012c0021	a0001c0001t0001 a0001c0001t0003 a0002c0003t0024 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0003t0024 a0012c0021t0013	a0001c0001t0001g0062 a0001c0001t0003g0180 a0002c0003t0024g0066 others(1): Show a0001c0001t0001g0062 a0001c0001t0003g0180 a0002c0003t0024g0066 a0012c0021t0013g0091	4	9	0.4444	892	c.100 others(911): Show c.1005+3279_1005+3280insTCCCTCTCCATCACCCCCTCTCCATC ACCCTCCCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCC TCTTCCCCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCAT CCCCCTCCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTC CCCTTCCCCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCT CTCCCACTTTGCTCACTCCCCCCTCCCTCTCCCCCTTCCCCCTCTCCCCT TCCCCTCCCCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCC CTCCCCATCCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCT CCCCTTCCCCCTTTCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTT CCCCCTCTCCCCATCCCCCTCCCCATCTTCCCTCTCCCTCTCCATCCCCA TCCCCCATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTT CTCCCCCATTCCCCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTC TCCCCCTCTTTCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCC TCTCCCCCCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCATCCCCATCT CCCCCTCCCCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCC CCACTCTGCCTCCCCATCTCCCCCTCCTCCTCTCCCCCTCCCCACTCTCC CTCCCCCTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCTCCCACCCC TCCCCACTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCC TCCCCCTCTCCCCCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCCCCC others(885): Show CCTCCCCCTCTCCCTCTCCATCACCCCCTCTCCATCACCCTCCCTTCTCT CCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCC CTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCC CCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCC CTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTC ACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCCCCCTCT TCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGC TCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTT CCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCAT CCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTC TCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCC TCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCTCCTCTTCCCC CCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCC CTCCCCCACTCTCCTCCCCCACTCCCATCCCCATCTCCCCCTCCCCATCT CCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTGCCTCCC CATCTCCCCCTCCTCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTCCCT CCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCACTCTCCCT CCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG03195.hp2 others(3): Show HG02257.hp2 HG02451.hp2 HG03195.hp2 HG03453.hp2 HG03540.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0053 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0053 a0001c0001t0054 a0003c0009t0020	a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0002g0048 others(3): Show a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0002g0048 a0001c0001t0053g0169 a0001c0001t0054g0131 a0003c0009t0020g0116	6	11	0.5455	892	c.100 others(911): Show c.1005+3279_1005+3280insTCCCTCTCCATCACCCCCTCTCCATC ACCCTCCCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCC TCTTCCCCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCAT CCCCCTCCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTC CCCTTCCCCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCT CTCCCACTTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCT TCCCCTCCCCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCC CTCCCCATCCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCT CCCCTTCCCCCTTTCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTT CCCCCTCTCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCA TCCCCCATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTT CTCCCCCATTCCCCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTC TCCTCCTCTTCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCC TCTCCCCCCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCATCCCCATCT CCCCCTCCCCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCC CCACTCTGCCTCCCCATCTCCCCCTCCTCCTCTCCCCCTCCCCACTCTCC CTCCCCCTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCC TCCCCACTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCC TCCCCCTCTCCCCCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(885): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGG GAGGGGCAGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCG GGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGG GGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGG GGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGG GGAAAGGGGTGAGGGGAGGATGGAGGGGGGAGGGGAGGGGAGGGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGG GGAGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GAGGGGGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGACGGGGA GGGGAGGGGGGAGGGGGAGGGGAGGGGGGGAGGGGGAGGGGAGGGGGGAG GGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGAGGGAG GGAAGGGAGGGGGAGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGG GAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGA GGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAG GGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGGGAGGGGGAGGGAAGGG AGGGAGGGGGAGGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	8	0.1250	892	c.250 others(907): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CCTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTC CCCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCC CTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCA CTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCT CCCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCCTCCCCTCCCC CTCCCCCCTCCCCTCCCCGTCCCCCCTCCCCCTCCCCCCTCCCCTCCCCC TCCCCCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCTC CCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCATCCTCCC CTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCC CCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCC TTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCT TTCCCCCTTCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCT CCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCC CCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCC CCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar

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