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
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(612): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCA GGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGT GGGGGAAGGGTGTGGGTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGG GTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGGG GAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGGG TGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGGG TGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	4	0.2500	619	c.712 others(636): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCACCCACACCCTTCCCCCACCCCACC CCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCCT TCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCC ACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACCC ATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACCCT TCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCCA CCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAACC CTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCAC CCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(612): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGG GCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAG GTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGTG GGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGG GTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGGG GAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGGG TGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGGG TGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	4	0.2500	619	c.712 others(636): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCC TTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTC CACCCCACCCCTCCCCCTCCCACCCACCCCACCCCTCCCCAGCCCCACCC ATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACCCT TCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCCA CCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAACC CTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCAC CCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CFAP61_chr20_20047532_20365698	20356953	T T	TACTGTGA others(612): Show TACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAAGTGGTCACACTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAG TCACACTGAGGGGAGGGGGTCATACTGCGAGTGGAGGTAGTCACACTGTG AAGGGTGATAGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGT CACACTGAGGGGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGAGG GGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGG GAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCA CAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGG GAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCA CACTGAGGGGAGGTGGTCAC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0003 a0012c0018t0003	a0012c0018t0003g0122 a0012c0018t0003g0122	1	105	0.0095	619	c.351 others(638): Show c.3514-3256_3514-3255insCTGTGAGTGAGGAGGTAGTCACACTG AGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATACTGC GAGTGGAGGTAGTCACACTGTGAAGGGTGATAGTCACACTGAGAGGAGGT GGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACTGTG AGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGA GGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGG TCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAG GGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356957	G G	GTGAGTGA others(612): Show GTGAGTGAGGAGGTAGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCAC ACTGAGGGGAGGTGGTCATACTGCGAGTGGAGGTAGTCACACTGTGAAGG GTGGTAGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACA CTGAGGGGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGAGGGGAG GTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAG TGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAG GTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAG TGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGT GTGAGGGGAGATGGTCACAC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18969.hp1 NA18955.hp1 NA18969.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0186 a0002c0002t0004g0012 a0002c0002t0001g0186 a0002c0002t0004g0012	2	232	0.0086	619	c.351 others(638): Show c.3514-3249_3514-3248insTGAGGAGGTAGTCACACTGAGGGGAA GTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTG TGAGTGAGGAGGTAGTCACACTGAGGGGAGGTGGTCATACTGCGAGTGGA GGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCACA CTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGGGGAA GTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGT GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAG ATGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACT GAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHODL_chr21_18239833_18272370	18251534	A A	ATAAAATA others(612): Show ATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTAATATA TAAAATAAATATTTATTTTAATATTAAAATAAATATTTATTTTATATATA AAATAAATATTTATTTAATATATAAAATAAATATTTATTTTAATATATAA AATAAATATTTATTTTAATATATAAAATATTTATTTTAATATATAAAATA AATATTTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATA TTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATA TTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATA TTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATA TTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATA TTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATA TTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATA TTTATTTTAATATATTAAAATAAATATTTATTTTATTTATTTATTTTAAT ATATAAAATATTTTATTTAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	322	0.0031	619	c.80- others(634): Show c.80-4974_80-4973insAAAATAAATATTTATTTTAATATATAAAAT AAATATTTATTTAATATATAAAATAAATATTTATTTTAATATTAAAATAA ATATTTATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATT TTATTTATTTATTTTAATATATAAAATATTTTATTTATT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CNTN6_chr3_1088024_1409217	1245282	C C	CATATATA others(612): Show CATATATATAATATATATAATATATATATAACATATATATAATATATATA ATATATATATAACATATATATAATATATATATAATATATATAATATATAT ATAACATATATATAATATATATAACATATATAATATATATAACATATATA TATAATATATATATAACATATATATATAATATATATATAACATATATATA TAATATATATATAACATATATATAATATATATATAACATATATATAATAT ATATAACATATATATAATATATATATAACATATATATATTATATATATAA CATATATATAATATATATATAACATTTATAATATATATATAACATATATA TAATATATATATAACATATATATATTATATATATAACATATATATATTAT ATATATATAACATATATATAATATATATAACATATATATATAATATATAT ATAACATATATATATAATATATATATAACATATATATATAATATATATAT AACATATATATATAATATATATATAACATATATATTATATATATAACATA TATATTATATATATAACATATATATTATATATATAACATATATATAATAT ATATATAACATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0150 a0001c0003t0001g0150	1	123	0.0081	619	c.358 others(638): Show c.358+17298_358+17299insATATATATAATATATATATAACATAT ATATAATATATATAATATATATATAACATATATATAATATATATATAATA TATATAATATATATATAACATATATATAATATATATAACATATATAATAT ATATAACATATATATATAATATATATATAACATATATATATAATATATAT ATAACATATATATATAATATATATATAACATATATATAATATATATATAA CATATATATAATATATATAACATATATATAATATATATATAACATATATA TATTATATATATAACATATATATAATATATATATAACATTTATAATATAT ATATAACATATATATAATATATATATAACATATATATATTATATATATAA CATATATATATTATATATATATAACATATATATAATATATATAACATATA TATATAATATATATATAACATATATATATAATATATATATAACATATATA TATAATATATATATAACATATATATATAATATATATATAACATATATATT ATATATATAACATATATATTATATATATAACATATATATTATATATATAA CATATATATAATATATATATAACATATATATATAATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CRTC3_chr15_90524923_90650345	90647272	T T	TCCACAAT others(612): Show TCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCT CCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCC CTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACAC CCCTCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTC CTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCA CAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTC CTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCC TCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACC CCTCCTCCTCAATCCTCCTCCACACCCCTCCTCAATCCTCCTCCACACCC CTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCA CACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTC CACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCACTCCTCC TCCACACCCCTCCTCCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0120 a0001c0001t0007g0120	1	143	0.0070	619	c.51 others(630): Show c.5132_*5133insCCACAATCCTCCTCCACACCCCTCCTCCTCAATC CTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAA TCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTC AATCCTCCTCCACACCCCTCCTCCTCCTCAATCCTCCTCCACACCCCTCC TCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCAC ACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCC TCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCT CCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCA ATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCAA TCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTC CTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCC TCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCT CCTCCTCACTCCTCCTCCACACCCCTCCTCCTCCA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1928		chr15	TogoVar
DNAH5_chr5_13685328_13949688	13827485	A A	ACAGGAGC others(612): Show ACAGGAGCCAGCATATAGCTCAGGCCATTGCTTCAAAGGGTGCAAGCCCC AAGCTCTGACAGTTTCCACATGGTGCTGGGCCTGCAGGTGTGCAGAAGAC AAGAATTGAGGTTTGGGAACCTCCACCTAGATTTCAGAGGATGTATGGAA ACACCAAGATGTCCAGGCAGAAGTTTCCTGCGTGGGTGGAGCCCTCATGG AGAACCTCTGCTAGAGCAGTGCAGAAGGGAAATGTGGGATTGGAGCCCCC ACACAGAGTCCCCACTGAGACACTGCCTAATGGAGCTGTGAGAAAAGGAC CACCATCCTTCAGATGCCAGAATGGTAGATCCACTGACAGCTTGTACTGT GCACCTAGAAAAGCCACAGACACTCAACATCAGGCCATGAAAGCAGCCAG GAGCGTGGCTGTACCCTGAAAAGCCACAGGCGTGGAGCTGCCCAAGGCTT TAGGAGCCCACCTCTTGCATCAGCAGGTCTGGATGTGAGACATGGAGTCA AAGCAGATCATTTTGGAAATTTAAGGTTTAATTACTGCCTTATTGAATTT TGGACTTGCATGAGGCCTGTAGCCTCTTTGTTTTGGCCAATTTCTCCCAT TTGGAACAGGTATATTTACC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01069.hp1 HG01069.hp2 others(50): Show HG00609.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01168.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG02132.hp1 HG02258.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03831.hp2 HG03927.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18939.hp2 NA18944.hp1 NA18960.hp1 NA18966.hp1 NA18984.hp2 NA18993.hp1 NA19002.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp1	a0003 a0005 a0006 others(32): Show a0003 a0005 a0006 a0007 a0008 a0011 a0012 a0013 a0020 a0021 a0024 a0025 a0027 a0031 a0033 a0051 a0059 a0060 a0063 a0069 a0075 a0077 a0083 a0089 a0090 a0091 a0092 a0093 a0097 a0118 a0120 a0127 a0132 a0143 a0146	a0003c0121 a0005c0063 a0005c0065 others(44): Show a0003c0121 a0005c0063 a0005c0065 a0006c0019 a0006c0081 a0007c0068 a0007c0069 a0008c0170 a0008c0171 a0011c0131 a0011c0132 a0011c0166 a0012c0004 a0012c0117 a0013c0084 a0020c0018 a0020c0089 a0021c0017 a0021c0090 a0024c0147 a0024c0148 a0025c0045 a0025c0111 a0027c0067 a0031c0030 a0033c0183 a0033c0184 a0051c0062 a0059c0165 a0060c0150 a0063c0037 a0069c0050 a0075c0192 a0077c0109 a0083c0142 a0089c0103 a0090c0083 a0091c0047 a0092c0141 a0093c0046 a0097c0064 a0118c0149 a0120c0055 a0127c0122 a0132c0085 a0143c0066 a0146c0195	a0003c0121t0001 a0005c0063t0006 a0005c0065t0002 others(45): Show a0003c0121t0001 a0005c0063t0006 a0005c0065t0002 a0006c0019t0001 a0006c0081t0001 a0007c0068t0001 a0007c0069t0001 a0008c0170t0002 a0008c0171t0020 a0011c0131t0005 a0011c0132t0001 a0011c0166t0002 a0012c0004t0001 a0012c0117t0001 a0013c0084t0001 a0020c0018t0002 a0020c0018t0003 a0020c0089t0002 a0021c0017t0001 a0021c0090t0001 a0024c0147t0006 a0024c0148t0001 a0025c0045t0001 a0025c0111t0007 a0027c0067t0009 a0031c0030t0002 a0033c0183t0002 a0033c0184t0002 a0051c0062t0002 a0059c0165t0001 a0060c0150t0002 a0063c0037t0011 a0069c0050t0008 a0075c0192t0001 a0077c0109t0002 a0083c0142t0002 a0089c0103t0002 a0090c0083t0001 a0091c0047t0004 a0092c0141t0002 a0093c0046t0003 a0097c0064t0001 a0118c0149t0022 a0120c0055t0003 a0127c0122t0001 a0132c0085t0018 a0143c0066t0001 a0146c0195t0001	a0003c0121t0001g0093 a0005c0063t0006g0151 a0005c0065t0002g0016 others(50): Show a0003c0121t0001g0093 a0005c0063t0006g0151 a0005c0065t0002g0016 a0006c0019t0001g0057 a0006c0019t0001g0077 a0006c0081t0001g0076 a0007c0068t0001g0156 a0007c0069t0001g0155 a0008c0170t0002g0115 a0008c0171t0020g0176 a0011c0131t0005g0011 a0011c0132t0001g0192 a0011c0166t0002g0117 a0012c0004t0001g0089 a0012c0004t0001g0090 a0012c0004t0001g0111 a0012c0117t0001g0105 a0013c0084t0001g0059 a0020c0018t0002g0085 a0020c0018t0003g0246 a0020c0089t0002g0103 a0021c0017t0001g0069 a0021c0017t0001g0072 a0021c0090t0001g0066 a0024c0147t0006g0188 a0024c0148t0001g0189 a0025c0045t0001g0060 a0025c0111t0007g0008 a0027c0067t0009g0154 a0031c0030t0002g0136 a0031c0030t0002g0137 a0033c0183t0002g0140 a0033c0184t0002g0135 a0051c0062t0002g0017 a0059c0165t0001g0122 a0060c0150t0002g0182 a0063c0037t0011g0006 a0069c0050t0008g0099 a0075c0192t0001g0026 a0077c0109t0002g0034 a0083c0142t0002g0144 a0089c0103t0002g0145 a0090c0083t0001g0153 a0091c0047t0004g0236 a0092c0141t0002g0134 a0093c0046t0003g0235 a0097c0064t0001g0021 a0118c0149t0022g0232 a0120c0055t0003g0243 a0127c0122t0001g0092 a0132c0085t0018g0062 a0143c0066t0001g0150 a0146c0195t0001g0223	53	189	0.2804	619	c.644 others(638): Show c.6444+2024_6444+2025insGGTAAATATACCTGTTCCAAATGGGA GAAATTGGCCAAAACAAAGAGGCTACAGGCCTCATGCAAGTCCAAAATTC AATAAGGCAGTAATTAAACCTTAAATTTCCAAAATGATCTGCTTTGACTC CATGTCTCACATCCAGACCTGCTGATGCAAGAGGTGGGCTCCTAAAGCCT TGGGCAGCTCCACGCCTGTGGCTTTTCAGGGTACAGCCACGCTCCTGGCT GCTTTCATGGCCTGATGTTGAGTGTCTGTGGCTTTTCTAGGTGCACAGTA CAAGCTGTCAGTGGATCTACCATTCTGGCATCTGAAGGATGGTGGTCCTT TTCTCACAGCTCCATTAGGCAGTGTCTCAGTGGGGACTCTGTGTGGGGGC TCCAATCCCACATTTCCCTTCTGCACTGCTCTAGCAGAGGTTCTCCATGA GGGCTCCACCCACGCAGGAAACTTCTGCCTGGACATCTTGGTGTTTCCAT ACATCCTCTGAAATCTAGGTGGAGGTTCCCAAACCTCAATTCTTGTCTTC TGCACACCTGCAGGCCCAGCACCATGTGGAAACTGTCAGAGCTTGGGGCT TGCACCCTTTGAAGCAATGGCCTGAGCTATATGCTGGCTCCTG	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	38/78			chr5	TogoVar
DNAH5_chr5_13685328_13949688	13827485	A A	ACAGGAGC others(612): Show ACAGGAGCCAGCATATAGCTCAGGCCATTGCTTCAAAGGGTGCAAGCCCC AAGCTCTGACAGTTTCCACATGGTGCTGGGCCTGCAGGTGTGCAGAAGAC AAGAATTGAGGTTTGGGAACCTCCACCTAGATTTCAGAGGATGTATGGAA ACACCAAGATGTCCAGGCAGAAGTTTCCTGCGTGGGTGGAGCCCTCATGG AGAACCTCTGCTAGAGCAGTGCAGAAGGGAGATGTGGGATTGGAGCCCCC ACACAGAGTCCCCACTGAGACACTGCCTAATGGAGCTGTGAGAAAAGGAC CACCATCCTTCAGATGCCAGAATGGTAGATCCACTGACAGCTTGTACTGT GCACCTAGAAAAGCCACAGACACTCAACATCAGGCCATGAAAGCAGCCAG GAGCGTGGCTGTACCCTGAAAAGCCACAGGCGTGGAGCTGCCCAAGGCTT TAGGAGCCCACCTCTTGCATCAGCAGGTCTGGATGTGAGACATGGAGTCA AAGCAGATCATTTTGGAAATTTAAGGTTTAATTACTGCCTTATTGAATTT TGGACTTGCATGAGGCCTGTAGCCTCTTTGTTTTGGCCAATTTCTCCCAT TTGGAACAGGTATATTTACC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02895.hp2 NA18522.hp1 HG00733.hp1 HG02895.hp2 NA18522.hp1	a0049 a0095 a0122 a0049 a0095 a0122	a0049c0042 a0095c0197 a0122c0124 a0049c0042 a0095c0197 a0122c0124	a0049c0042t0001 a0095c0197t0014 a0122c0124t0005 a0049c0042t0001 a0095c0197t0014 a0122c0124t0005	a0049c0042t0001g0067 a0095c0197t0014g0224 a0122c0124t0005g0009 a0049c0042t0001g0067 a0095c0197t0014g0224 a0122c0124t0005g0009	3	139	0.0216	619	c.644 others(638): Show c.6444+2024_6444+2025insGGTAAATATACCTGTTCCAAATGGGA GAAATTGGCCAAAACAAAGAGGCTACAGGCCTCATGCAAGTCCAAAATTC AATAAGGCAGTAATTAAACCTTAAATTTCCAAAATGATCTGCTTTGACTC CATGTCTCACATCCAGACCTGCTGATGCAAGAGGTGGGCTCCTAAAGCCT TGGGCAGCTCCACGCCTGTGGCTTTTCAGGGTACAGCCACGCTCCTGGCT GCTTTCATGGCCTGATGTTGAGTGTCTGTGGCTTTTCTAGGTGCACAGTA CAAGCTGTCAGTGGATCTACCATTCTGGCATCTGAAGGATGGTGGTCCTT TTCTCACAGCTCCATTAGGCAGTGTCTCAGTGGGGACTCTGTGTGGGGGC TCCAATCCCACATCTCCCTTCTGCACTGCTCTAGCAGAGGTTCTCCATGA GGGCTCCACCCACGCAGGAAACTTCTGCCTGGACATCTTGGTGTTTCCAT ACATCCTCTGAAATCTAGGTGGAGGTTCCCAAACCTCAATTCTTGTCTTC TGCACACCTGCAGGCCCAGCACCATGTGGAAACTGTCAGAGCTTGGGGCT TGCACCCTTTGAAGCAATGGCCTGAGCTATATGCTGGCTCCTG	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	38/78			chr5	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(612): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp1 HG02630.hp2 others(4): Show HG01109.hp1 HG02486.hp1 HG02630.hp2 HG03041.hp2 HG03579.hp2 NA19030.hp2 NA19089.hp2	a0009 a0011 a0014 others(1): Show a0009 a0011 a0014 a0042	a0009c0016 a0009c0030 a0011c0017 others(3): Show a0009c0016 a0009c0030 a0011c0017 a0011c0036 a0014c0039 a0042c0048	a0009c0016t0003 a0009c0030t0001 a0011c0017t0004 others(3): Show a0009c0016t0003 a0009c0030t0001 a0011c0017t0004 a0011c0036t0003 a0014c0039t0001 a0042c0048t0016	a0009c0016t0003g0061 a0009c0016t0003g0068 a0009c0030t0001g0069 others(4): Show a0009c0016t0003g0061 a0009c0016t0003g0068 a0009c0030t0001g0069 a0011c0017t0004g0076 a0011c0036t0003g0281 a0014c0039t0001g0128 a0042c0048t0016g0078	7	187	0.0374	619	c.953 others(634): Show c.953-287_953-286insTTTTTTTTTTTTTTTTTTTTTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGG ACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAA ACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGG TATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAG ATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(612): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA ATAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02559.hp2 others(9): Show HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03540.hp2 NA18906.hp2 NA19030.hp1	a0002 a0004 a0007 others(6): Show a0002 a0004 a0007 a0010 a0011 a0012 a0016 a0027 a0032	a0002c0019 a0004c0050 a0007c0013 others(6): Show a0002c0019 a0004c0050 a0007c0013 a0010c0012 a0011c0017 a0012c0024 a0016c0035 a0027c0046 a0032c0049	a0002c0019t0001 a0004c0050t0003 a0007c0013t0002 others(6): Show a0002c0019t0001 a0004c0050t0003 a0007c0013t0002 a0010c0012t0002 a0011c0017t0004 a0012c0024t0007 a0016c0035t0004 a0027c0046t0008 a0032c0049t0001	a0002c0019t0001g0278 a0004c0050t0003g0280 a0007c0013t0002g0273 others(8): Show a0002c0019t0001g0278 a0004c0050t0003g0280 a0007c0013t0002g0273 a0010c0012t0002g0042 a0011c0017t0004g0002 a0011c0017t0004g0070 a0011c0017t0004g0072 a0012c0024t0007g0071 a0016c0035t0004g0074 a0027c0046t0008g0286 a0032c0049t0001g0041	12	192	0.0625	619	c.953 others(634): Show c.953-287_953-286insTTTTTTTTTTTTTTTTTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGG ACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAA ACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGG TATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAG ATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(612): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAAATAA ATAAATAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02818.hp2 NA18522.hp2 HG01884.hp1 HG02818.hp2 NA18522.hp2	a0005 a0007 a0030 a0005 a0007 a0030	a0005c0006 a0007c0013 a0030c0052 a0005c0006 a0007c0013 a0030c0052	a0005c0006t0001 a0007c0013t0006 a0030c0052t0002 a0005c0006t0001 a0007c0013t0006 a0030c0052t0002	a0005c0006t0001g0274 a0007c0013t0006g0277 a0030c0052t0002g0275 a0005c0006t0001g0274 a0007c0013t0006g0277 a0030c0052t0002g0275	3	183	0.0164	619	c.953 others(634): Show c.953-287_953-286insTTTTTTTTTTTTTTATTTATTTATTTATTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGG ACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAA ACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGG TATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAG ATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169555633	T T	TCAACCAT others(612): Show TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGG GTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAATAAATAAATAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0012 a0012	a0012c0024 a0012c0024	a0012c0024t0012 a0012c0024t0012	a0012c0024t0012g0049 a0012c0024t0012g0049	1	181	0.0055	619	c.953 others(634): Show c.953-287_953-286insTTTTTTTTTTTTTTTTTTTTTTATTTATTT ATTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGG ACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAA ACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGG TATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAG ATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTG	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
HEATR5A_chr14_31286788_31425550	31390861	G G	GTTAACTA others(612): Show GTTAACTACAAAACAGCTTCAGGTAGGCCCTTTAGGAAGTATTCTAGAAC AAGGCATCGCTATTACAGGAGATAACAGCTCCATGCGTGTCACTGCCCTT GAAGACCATCCAGTGGGACAAGATACTAAGGTGAAAGACAGTGAGATTGA TGGTTCTGACTCTGTGTAGGCCTGGGCTAATGTGTGTGTTTAAAAGTTAA AAAAAATTTTTTTAATAGAAAAAAGCTTATAGAACAAGGATACAAGGATA TAAAGAAAATATTTTTGTAGAGCTGTACAATGTATCTACGTTTTAAGCTA AATGTTACTATTATTTCTAGAGCAGTGGCAGGATCTCAACTCACTGAAAC CTCTGCCTCCCATGTTAAAGGGTTCAAGTGATTCTCATGCCTCAGCCTCC CAAGCAGCTGGAACTACAGGCACATGCCACCACGTCCCGCTAATTTTTGC ATTTTTAGTAGACAGATGAGGTTTCCCCATCTTGGCCAGGCTGGTCTTGA ACTCCTGACTTCAAGCAATCCATCCGCCTTGGCCTCCCAAAGTGCTGGGA TTACAAGCATGAGCCACTGCACCTGGCCCCTAAATGTTATTATAAAAATA TTCAAAGGAATCAAAGCTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG03209.hp2 others(1): Show HG02109.hp1 HG02145.hp1 HG03209.hp2 HG03540.hp1	a0011 a0026 a0011 a0026	a0011c0013 a0026c0023 a0011c0013 a0026c0023	a0011c0013t0011 a0026c0023t0021 a0011c0013t0011 a0026c0023t0021	a0011c0013t0011g0338 a0011c0013t0011g0339 a0011c0013t0011g0340 others(1): Show a0011c0013t0011g0338 a0011c0013t0011g0339 a0011c0013t0011g0340 a0026c0023t0021g0341	4	354	0.0113	619	c.773 others(636): Show c.773-1857_773-1856insACAGCTTTGATTCCTTTGAATATTTTTA TAATAACATTTAGGGGCCAGGTGCAGTGGCTCATGCTTGTAATCCCAGCA CTTTGGGAGGCCAAGGCGGATGGATTGCTTGAAGTCAGGAGTTCAAGACC AGCCTGGCCAAGATGGGGAAACCTCATCTGTCTACTAAAAATGCAAAAAT TAGCGGGACGTGGTGGCATGTGCCTGTAGTTCCAGCTGCTTGGGAGGCTG AGGCATGAGAATCACTTGAACCCTTTAACATGGGAGGCAGAGGTTTCAGT GAGTTGAGATCCTGCCACTGCTCTAGAAATAATAGTAACATTTAGCTTAA AACGTAGATACATTGTACAGCTCTACAAAAATATTTTCTTTATATCCTTG TATCCTTGTTCTATAAGCTTTTTTCTATTAAAAAAATTTTTTTTAACTTT TAAACACACACATTAGCCCAGGCCTACACAGAGTCAGAACCATCAATCTC ACTGTCTTTCACCTTAGTATCTTGTCCCACTGGATGGTCTTCAAGGGCAG TGACACGCATGGAGCTGTTATCTCCTGTAATAGCGATGCCTTGTTCTAGA ATACTTCCTAAAGGGCCTACCTGAAGCTGTTTTGTAGTTAA	HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	6/35			chr14	TogoVar
IFFO2_chr1_18899280_18961676	18926017	A A	ATGGATGG others(612): Show ATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGA TGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGAT GGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGG ATGGATTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATTGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGTTGGA TGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATTGGT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0197 a0001c0001t0006g0197	1	363	0.0028	619	c.666 others(636): Show c.666-4897_666-4896insACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCAT CCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCAATCCATCCATCCATCCATCCATCCAACCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(612): Show TAATATATATATGGAATATATACGGAATATATATATAATATATATGGAAT ATATATATACGGAATATATATAATATATATACGGAATATATATATACGGA ATATATATAATATATATACGGAATATATATATAATATATATATAATATAT ATACGGAATATATATATAATATATAAATGGAATATATATACGGAATATAT ATATAATATATAAATGGAATATATATATACGGAATATATATATAATATAT AAATGGAATATATATATACGGAATATATATATAATATATATATGGAATAT ATATATACGGAATATATATATAATATATATATGGAATATATATATACGGA ATATATATATAATATATATATGGAATATATATATACGGAATATATATATT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATACGGAATATATATATATGGATATATATACGGAATATATATAT ATGGAATATATATATATGGAATGTGTATATATGGAATATATATATATGGA ATGTGTATATATGGAATATATATATATGGAATGTGTATATATGGAATATA TATATGGAATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	62	0.0161	619	c.-21 others(630): Show c.-2147_-2146insAATATATATATGGAATATATACGGAATATATATA TAATATATATGGAATATATATATACGGAATATATATAATATATATACGGA ATATATATATACGGAATATATATAATATATATACGGAATATATATATAAT ATATATATAATATATATACGGAATATATATATAATATATAAATGGAATAT ATATACGGAATATATATATAATATATAAATGGAATATATATATACGGAAT ATATATATAATATATAAATGGAATATATATATACGGAATATATATATAAT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATATACGGAATATATATATAATATATATATGGAATATATATATA CGGAATATATATATTATATATATGGAATATATATATACGGAATATATATA TAATATATATATGGAATATATATACGGAATATATATATATGGATATATAT ACGGAATATATATATATGGAATATATATATATGGAATGTGTATATATGGA ATATATATATATGGAATGTGTATATATGGAATATATATATATGGAATGTG TATATATGGAATATATATATGGAATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323249	A A	ATATATAT others(612): Show ATATATATATATGGAATATATATACATGGAATATATACATGGAATATATA TACATGGAATATATATACATGGAATATATATACATGGAATATATATACAT GGAATATATATACATGGAATATATATACATGGAATATATATACATGGAAT ATATATACATGGAATATATACATGGAATATATATACATGGAATATATACA TGGAATATATATACATGGAATATATACATGGAATATATACATGGAATATA TATACATGGAATGTATACATGGAATATATATACATGGAATGTATACATGG AATATATATATGGAATGTATACATATGGAATATATATATATGGAATGTAT ACATATGGAATATATATATGGAATGTATACATATGGAATATATATATGGA ATGTATACATATGGAATATATATATGGAATGTATACATATGGAATATATA TATGGAATGTATATATATGGAATATATATATGGAATGTATATATATGGAG TATATATATGGAATGTATATATATGGAATGTATATATATGGAATGTATAT ATATGGAATGTATATATATGGAATGTATATATATGGAATGTATATATATG GAATGTATATATATGGAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0241 a0001c0001t0027g0241	1	321	0.0031	619	c.-18 others(630): Show c.-1807_-1806insTATATATATATGGAATATATATACATGGAATATA TACATGGAATATATATACATGGAATATATATACATGGAATATATATACAT GGAATATATATACATGGAATATATATACATGGAATATATATACATGGAAT ATATATACATGGAATATATATACATGGAATATATACATGGAATATATATA CATGGAATATATACATGGAATATATATACATGGAATATATACATGGAATA TATACATGGAATATATATACATGGAATGTATACATGGAATATATATACAT GGAATGTATACATGGAATATATATATGGAATGTATACATATGGAATATAT ATATATGGAATGTATACATATGGAATATATATATGGAATGTATACATATG GAATATATATATGGAATGTATACATATGGAATATATATATGGAATGTATA CATATGGAATATATATATGGAATGTATATATATGGAATATATATATGGAA TGTATATATATGGAGTATATATATGGAATGTATATATATGGAATGTATAT ATATGGAATGTATATATATGGAATGTATATATATGGAATGTATATATATG GAATGTATATATATGGAATGTATATATATGGAATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1720		chr21	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(612): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGT GGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGC GGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGG GGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGC GGGGCTCGGGGGGAGGCGGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0004 a0001c0043t0004	a0001c0043t0004g0063 a0001c0043t0004g0063	1	100	0.0100	619	c.623 others(636): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGG CTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGC GGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGG GGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGC GGGGCTCGGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGG GAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGC GGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163240	C C	CCCCTCCA others(612): Show CCCCTCCACAGAACCGGACCCCTCCCCTCTCCCTCCACAGAACCGGACCC CTCCCCTCCCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCT CTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCCTCCACAGAACCGG ACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCCTCCACAGAACCGGACCCCTC CCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCT CTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAAC CGGAGCCCTCCCCTCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCC CTCCACAGAACCGGACCCCTCCCCTCTCCCTCCACAGAACCGGACCCCTC CCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACA GAACCGGAGCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0048 a0004c0008t0048	a0004c0008t0048g0201 a0004c0008t0048g0201	1	217	0.0046	619	c.258 others(636): Show c.2584-252_2584-251insCTCCACAGAACCGGACCCCTCCCCTCTC CCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCACAGAACCGGAGCCCT CCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCAC AGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCC TCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCG GACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCCT CCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCT CCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCAC AGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCC TCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCCTCCACAGAACCG GACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCCT CCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCT CCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163240	C C	CCCCTCCA others(612): Show CCCCTCCACAGAACCGGACCCCTCCCCTCTCCCTCCACAGAACCGGACCC CTCCCCTCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCT CTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCCTCCACAGAACCGG ACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCCTCCACAGAACCGGACCCCTC CCCTCTCCTCCCTCCACAGAAACGGACCCCTCCCCTCTTCTCCCTCCACA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCT CTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAAC CGGAGCCCTCCCCTCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCC CTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCC CTCCCCTCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0040 a0002c0040	a0002c0040t0027 a0002c0040t0027	a0002c0040t0027g0158 a0002c0040t0027g0158	1	217	0.0046	619	c.258 others(636): Show c.2584-252_2584-251insCTCCACAGAACCGGACCCCTCCCCTCTC CCTCCACAGAACCGGACCCCTCCCCTCTCCCTCCACAGAACCGGAGCCCT CCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCAC AGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCC TCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCG GACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCCT CCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAAACGGACCCCT CCCCTCTTCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCAC AGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCC TCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCCTCCACAGAACCG GACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTC CCTCCACAGAACCGGAGCCCTCCCCTCTCCCTCCACAGAACCGGACCCCT CCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(612): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAG GAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGA AGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAG GAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAA GAGTCCGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG01106.hp2 HG01243.hp1 others(3): Show HG00558.hp2 HG01106.hp2 HG01243.hp1 NA19030.hp1 NA19079.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0003 a0001c0001t0005 a0001c0001t0018 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0018 a0001c0001t0048 a0001c0002t0001 a0001c0005t0002	a0001c0001t0003g0003 a0001c0001t0005g0015 a0001c0001t0018g0091 others(3): Show a0001c0001t0003g0003 a0001c0001t0005g0015 a0001c0001t0018g0091 a0001c0001t0048g0152 a0001c0002t0001g0029 a0001c0005t0002g0139	6	10	0.6000	619	c.-46 others(630): Show c.-4676_-4675insTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTCCT CCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTCCT CCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCC CTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTT TCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTT TCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTC CCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTC CCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCC CTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTC CCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCC TCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
LUC7L_chr16_183990_234449	186391	G G	GGAGGAAC others(612): Show GGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGAGGGAGGAACAGC GACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGAGGAACAGCGAC ACGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGAGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	302	0.0033	619	c.28 others(630): Show c.2806_*2807insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCG TGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCC CCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTC CTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGC TGTTCCTCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTG TCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCG TGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCC CCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTC CCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2598		chr16	TogoVar
MBD3L3_chr19_7051207_7063676	7061806	T T	TATATAAT others(612): Show TATATAATTATATTCTATATAATATAATTATATAATATATAATTATATTC TATATAGAATATAATTATATAATATATAATTATATTCTATATTATATAAT TATAATATAATTATATAAGATAATTATATAATATATAATTATATTATATA TATTATATAATATATAATTATATTATATATATTATATAATATATAATTAT ATTATATATATTATATAATATATAATTATATTATATATTATATAATATAT AATTATATTATATATTATATAATATATAATTATATTATATATTATATAAT ATATAATTATATTATATATTATATAATATATAATTATATTATATATTATA TAATATATAATTATATTATATATTATATAATATATAATTATATTATATAT TATATAATATATAATTATATTATATATTATAATATATTTAATATAATTAT ATTATAGATTATAATCTATAATATAATTATATTAATAGTATTATAATATA TAATATATTATATATAATTATATTATAACATATTATATATAATTATATTA TAGATCATAATCTATAATTATATATAATATGTTATAATATATAATTATAT TCTATATATAATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	279	0.0036	619	c.-32 others(630): Show c.-3202_-3201insTATATATAATTATATATAGAATATAATTATATAT TATAACATATTATATATAATTATAGATTATGATCTATAATATAATTATAT ATAATATGTTATAATATAATTATATATAATATATTATATATTATAATACT ATTAATATAATTATATTATAGATTATAATCTATAATATAATTATATTAAA TATATTATAATATATAATATAATTATATATTATATAATATATAATATAAT TATATATTATATAATATATAATATAATTATATATTATATAATATATAATA TAATTATATATTATATAATATATAATATAATTATATATTATATAATATAT AATATAATTATATATTATATAATATATAATATAATTATATATTATATAAT ATATAATATAATTATATATTATATAATATATATAATATAATTATATATTA TATAATATATATAATATAATTATATATTATATAATATATATAATATAATT ATATATTATATAATTATCTTATATAATTATATTATAATTATATAATATAG AATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATAT ATTATATAATTATATTATATAGAATATAATTATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3131		chr19	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(612): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGAGTGTGATTGGTGGAGTGTGGTTGGTAGGGGAGTGTGGTTGG TGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTG GTGGGGGAGTGTGGTTGGGGGAGTGTGGTTGGTGGGGGAGTGTGTTTGGT GGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGG TGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTT GGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGT TTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGGTTG ATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTGTGGTTG GTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGTGTGGTTG ATGGGAGTGTGGTTGATGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTGG TGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTG GTGGGGGAGTGTGGTTGATG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01074.hp1 HG01192.hp1 others(2): Show HG01069.hp2 HG01074.hp1 HG01192.hp1 HG01517.hp1 HG02148.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0019 a0001c0004t0006 a0001c0004t0019	a0001c0004t0006g0344 a0001c0004t0006g0345 a0001c0004t0019g0333 others(2): Show a0001c0004t0006g0344 a0001c0004t0006g0345 a0001c0004t0019g0333 a0001c0004t0019g0343 a0001c0004t0019g0349	5	29	0.1724	619	c.57+ others(636): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGAGTGTGATTGGTGGAGTGTGGTTGGTAGGGGAGTGT GGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGGTTGGTGGGGGAGTGTG TTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGT GTTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGGAGT GTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAG TGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTG TGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTG TGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGTG TGGTTGATGGGAGTGTGGTTGATGGGGAGTGTGGTTGATGGGGGGAGTGT GGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGGTGGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGA others(612): Show AAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAG GAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGG AAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGG TGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGG AAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGG AGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAG GGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGGGGAGGGGGAGGGGGAGGG AAGAGAGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGA AGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGAGGGGAGGGGGGAGGGAG GGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGG GGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGG GGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0005 a0003c0003t0009g0005	1	8	0.1250	619	c.250 others(634): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCCTCCCTCCC TTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTC CCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCTCCCTCCCC CCTCCCCTCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCC TCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCTCTCTTCCCTCCCCCT CCCCCTCCCCCCCTCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCC CCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCC CCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCC CCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCC CTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTC CTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(612): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCTCCTCCCCTCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCCC CTCCTCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCT CTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCT CCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCC CTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0076 a0003c0003t0001g0076	1	4	0.2500	619	c.114 others(638): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCTC CCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCT CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCT CCCCTCCTCCCCTCCCCTCCCCTCCTCCCTCCTCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCC TCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCT CCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
NCAPG2_chr7_158626169_158709804	158668042	C C	CCTTACCC others(612): Show CCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCC TTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCT CCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACT GGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTT ACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCG CCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGG GTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACC CACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCC CTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGT CCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCA CTACTGGGTCCCTCTGCCCG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	253	0.0040	619	c.148 others(638): Show c.1480-3293_1480-3292insCGGGCAGAGGGACCCAGTAGTGGGTA AGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAG GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTA GTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGG GACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGAC CCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGG TAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCC AGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NKAIN2_chr6_123798865_124830640	124687566	T T	TATATTCC others(612): Show TATATTCCATATATATACATACATGGTATATATTCCATATATACATACAT GGTATATATTCCTATATATACATACATGGTATATATTCCATATATATACA TACATGGTATATATTCCATATATATACATACATGGTATATATTCCATATA TATATACATACATGGTATATATTCCATATATATATACACATACATGGTAT ATATTCCATATATACATACATGGTATATATTCCTATATATACATACATGG TATATATTCCAATATATACATACATGGTATATATTCCATATATATACATA CATGGTATATATTCCATATATATATACATACATGGTATATATTCCATATA TATACATACATGGAATATATATATTCCATATATACATATATATATTCCAT ATATACACAGATATATATTCCATATATACACATATACATGGAATATATAT CTGTATATATATGGAATATATATATGTATATATATGAAATATATATGTAT ATGTATTTATATTATGTATTTATATTATAAATATATATTATGTATATATA TTTATATTATAAATATATATTATGTATATATATTTATATTATAAATATAT ATTATGTATATATATTTATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0063 a0001c0002t0004g0063	1	35	0.0286	619	c.474 others(638): Show c.474+29184_474+29185insTCCATATATATACATACATGGTATAT ATTCCATATATACATACATGGTATATATTCCTATATATACATACATGGTA TATATTCCATATATATACATACATGGTATATATTCCATATATATACATAC ATGGTATATATTCCATATATATATACATACATGGTATATATTCCATATAT ATATACACATACATGGTATATATTCCATATATACATACATGGTATATATT CCTATATATACATACATGGTATATATTCCAATATATACATACATGGTATA TATTCCATATATATACATACATGGTATATATTCCATATATATATACATAC ATGGTATATATTCCATATATATACATACATGGAATATATATATTCCATAT ATACATATATATATTCCATATATACACAGATATATATTCCATATATACAC ATATACATGGAATATATATCTGTATATATATGGAATATATATATGTATAT ATATGAAATATATATGTATATGTATTTATATTATGTATTTATATTATAAA TATATATTATGTATATATATTTATATTATAAATATATATTATGTATATAT ATTTATATTATAAATATATATTATGTATATATATTTATAATAT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NOTCH1_chr9_136489433_136551048	136535021	C C	CCCCCCAG others(612): Show CCCCCCAGTCCCTCCCCAGAGCCCCTCAGTCCCTCCCCACAGAGCCCCCC AGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCGAGTCCGT CCCCACAGAGCCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCC CAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGA GCCCCCGAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCC CGAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACAGAGCCCCCACTCC CTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCCCCAGTCCCTCCCC ACAGAGCCCCCCAGTCCCCCCCCACAGAGCCCCCAGTCCCTCCCCACAGA GCCCCCGAGTCCCTCCCCACAGAGCCCCCGAGTCTGTCCCCACAGGCCCC ACTGGACACCAGGCTCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCC ACAGAGCCCCCCAGTCCCTCCTCACAGAGCCCCCGAGTCCCTCCCCACAG AGCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCC CCAAGTCCGTCCCCACAGAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03540.hp2 HG03471.hp1 HG03540.hp2	a0001 a0018 a0001 a0018	a0001c0018 a0018c0045 a0001c0018 a0018c0045	a0001c0018t0001 a0018c0045t0003 a0001c0018t0001 a0018c0045t0003	a0001c0018t0001g0250 a0018c0045t0003g0306 a0001c0018t0001g0250 a0018c0045t0003g0306	2	321	0.0062	619	c.140 others(636): Show c.140+9002_140+9003insCTCTGTGGGGACGGACTTGGGGGCTCTG TGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGCTCTGTGGGG AGGGACTCGGGGGCTCTGTGAGGAGGGACTGGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGAGGGACTGGAGCCTGGTGTCCAGTGGGGCCTG TGGGGACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGG ACTGGGGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGG GGCTCTGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCT GTGGGGAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGA CTGGGGGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTC GGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCT CTGTGGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(612): Show TCCTCTCCTCCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCTCCCAC CCTCCCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTTC CCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCT CCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCC TCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTC CCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCT CTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0133 a0001c0001t0063g0133	1	30	0.0333	619	c.433 others(636): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGGGAGGGTGGGAGG GGAGGGGAGGGGAGAGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	841572	G G	GGCGCATC others(612): Show GGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCAC ACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCATGCCGGCGAGCA GGTCCACCCTGACCACGGCGCATCTCACATGGGCGAGCAGGTCCACCCTG ACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCAT CTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCG AGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCAC CCTGACCACGGCGCATCTCATGCCGGCGAGCAGGTCCACCCTGACCACGG CGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACAC CCACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGT CCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACC ACAGCGCATCTCACGCCGGCGAGCAGGTCCACCCTGACCACGGCGCATCT CACATGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGA GCAGGTCCACCCTGACCACA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0152 a0001c0001t0004g0152	1	230	0.0043	619	c.361 others(638): Show c.361-15495_361-15494insTGTGGTCAGGGTGGACCTGCTCGCCC GTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCATGTGAGATGC GCCGTGGTCAGGGTGGACCTGCTCGCCGGCGTGAGATGCGCTGTGGTCAG GGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGC TCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGA GATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGG TCAGGGTGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGAC CTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCG TGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGC CGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGT GGACCTGCTCGCCCATGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCG CCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGA TGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841586	C C	CCACAGGC others(612): Show CCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGT CCCCCCTGACCACGGAGCATCTCACACCCGCGAGCAGGTCCCCCCGACCA CGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTC ACACCCACAGGCAGGTCCCCCCGACCACAGAGCATCTCACACGGGCGAGC AGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCT GACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGC ATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGG CGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACCCACGGGCAGGTCC CCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACG GCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCAC ACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCA GGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTG ACCACGGCGCATCTCACATG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0004 a0001c0001t0019g0004	1	76	0.0132	619	c.361 others(638): Show c.361-15509_361-15508insCATGTGAGATGCGCCGTGGTCAGGGT GGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCG CCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGA TGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGT CAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCT GCCCGTGGGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTG TGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCTCCG TGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGG GACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGC CCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATG CGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCG GGGGGACCTGCTCGCGGGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGC TCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841638	A A	ACCCTGAC others(612): Show ACCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCAC GGAGCATCTCACACCCACAGGCAGGTCCCCCCTGACCACAGCGCATCTCA CACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGC AGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCT GACCACGGAGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGAGCA TCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACCCA CAGGCAGGTCCCCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCC CCCTGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGG AGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACA CCCACAGGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAG GTCCACCCTGACCACGGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGAC CACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCT CACACGGGCGAGCAGGTCCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	176	0.0057	619	c.361 others(638): Show c.361-15561_361-15560insGGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGG GGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTGCTC GCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCCTGTGGGTGTGAG ATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGG TCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCAGGGGGGACC TGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGGGGACCTGCCTGTGGGTG TGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCC GTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCTCCGTGGTCAGGGGG GACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGC CCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGAT GCGCTGTGGTCAGGGGGGACCTGCCTGTGGGTGTGAGATGCTCCGTGGTC AGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949166	G G	GGCCTCCT others(612): Show GGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTC TCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCGGCCTC CTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC TGCCTCCTCCTCTCCCCGCGGCCTCTCCTCTCCCCGCGGCCTCCTCCTCT CCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTC CTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCT CCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTC CTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCC CGGCCTCCTCCTCTCCCCCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	133	0.0075	619	c.360 others(638): Show c.360+30152_360+30153insAGGGGGAGAGGAGGAGGCCGGGGGGA GAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCC GGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCC GGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGA GGAGGCCGCGGGGAGAGGAGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCC GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAG GAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCC TGGGGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	299	0.0033	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGGAGTG CAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCC TGGGGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18951.hp1 NA19091.hp2 HG00558.hp1 NA18951.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0246 a0001c0001t0003g0292 a0001c0001t0003g0298 a0001c0001t0003g0246 a0001c0001t0003g0292 a0001c0001t0003g0298	3	301	0.0100	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGGAGTG CAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCC TGGGGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp2 HG03041.hp1 others(2): Show HG02258.hp2 HG02922.hp2 HG03041.hp1 HG03139.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0063 a0001c0001t0005g0102 a0001c0001t0005g0011 a0001c0001t0005g0063 a0001c0001t0005g0102	5	303	0.0165	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGGAGTG CAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGC GCCCGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCC TGGGGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	299	0.0033	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGGAGTG CAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCGGGCGCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGACC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCC TGGGGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	299	0.0033	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGGAGTG CAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGTCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCACACG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCC TGGGGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02559.hp2 HG02572.hp2 others(8): Show HG01109.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG03139.hp2 HG03209.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 others(2): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0006t0011	a0001c0001t0009g0038 a0001c0001t0009g0039 a0001c0001t0009g0040 others(8): Show a0001c0001t0009g0038 a0001c0001t0009g0039 a0001c0001t0009g0040 a0001c0001t0009g0101 a0001c0001t0010g0064 a0001c0001t0010g0067 a0001c0001t0010g0121 a0001c0001t0011g0058 a0001c0001t0011g0116 a0001c0001t0016g0119 a0001c0006t0011g0082	11	309	0.0356	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGGAGTG CAGTGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCC TGGGGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18960.hp2 NA19056.hp2 HG02155.hp2 NA18960.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0209 a0001c0001t0001g0034 a0001c0001t0001g0209	3	301	0.0100	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGGAGTG CAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTACACTCCAGCC TGGGGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00738.hp2 others(25): Show HG00280.hp2 HG00323.hp2 HG00738.hp2 HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG02040.hp2 HG03209.hp2 HG03490.hp2 NA18747.hp2 NA18942.hp1 NA18948.hp1 NA18954.hp1 NA18970.hp1 NA18983.hp1 NA19012.hp1 NA19064.hp1 NA19067.hp1 NA19078.hp1 NA19080.hp2 NA19084.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0017 a0001c0001t0004g0018 others(18): Show a0001c0001t0004g0006 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0021 a0001c0001t0004g0049 a0001c0001t0004g0066 a0001c0001t0004g0068 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0130 a0001c0001t0004g0132 a0001c0001t0004g0134 a0001c0001t0004g0141 a0001c0001t0004g0148 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0249	28	326	0.0859	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGGAGTG TAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCC TGGCGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02109.hp1 HG02683.hp2 others(2): Show HG00099.hp2 HG02109.hp1 HG02683.hp2 HG03688.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0113 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0113	5	303	0.0165	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCGCCAGGCTGGAGTG CAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCC TGGGCGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	299	0.0033	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCGAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCACACG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCC TGGGGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02559.hp1 others(11): Show HG01891.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp1 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0015 a0001c0001t0019 a0001c0001t0006 a0001c0001t0015 a0001c0001t0019	a0001c0001t0006g0005 a0001c0001t0006g0057 a0001c0001t0006g0059 others(8): Show a0001c0001t0006g0005 a0001c0001t0006g0057 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0131 a0001c0001t0006g0135 a0001c0001t0006g0136 a0001c0001t0006g0138 a0001c0001t0015g0104 a0001c0001t0015g0118 a0001c0001t0019g0120	14	312	0.0449	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGGAGTG CAGTGGCGCCATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTCGGCCAGGCCCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
P2RX1_chr17_3891592_3921465	3899245	G G	GCCAGGCT others(612): Show GCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGCAGCCTCCACCT CCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATC CGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGG GCCTGGCCTAGACCCCATCTCTTGCAAACAAACAAAAAAGAGTTGGGGCC AGGCACGGTGGTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGTGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACC CGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCC TGGGGGACAGAGAGAGACTTTGCCTCAAACAAACAAACAAACAAAAAGAG ATGGGGTCTCATTCTGTCAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03453.hp1 HG02615.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0023 a0001c0001t0004g0023	2	300	0.0067	619	c.876 others(634): Show c.876-222_876-221insGTGACAGAATGAGACCCCATCTCTTTTTGT TTGTTTGTTTGTTTGAGGCAAAGTCTCTCTCTGTCCCCCAGGCTGGAGTG CAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGACCACCGTGCCTGGCCCCAACT CTTTTTTGTTTGTTTGCAAGAGATGGGGTCTAGGCCAGGCCCGGTGGCTC ACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACAAGG TCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGCCGGGCGTGGTGGCACACGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGC TGCAGTGAGCCGAGATCGTGCCGCTGCACTCCAGCCTGG	P2RX1	ENSG00000108405.4	transcript	ENST00000225538.4	protein_coding	8/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686705	T T	TCCCCCGC others(612): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCC CCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGA GAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCG CCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCC AACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGG GCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAAC AGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCC TCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAG CGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCA GAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCC GCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGG ACCCTCCCAACGTCCCCCGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0316 a0002c0002t0001g0316	1	318	0.0031	619	c.981 others(636): Show c.981+1306_981+1307insGCGGGGGACGTTGGGAGGGTCCCTGGGG GCCCAGCTGTGTGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACG TTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTCTGAGGCTG GGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGT TCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCT GGGGGCCCAGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGG GACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTCTGAG GCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCAGCTGT GTGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGT CCCTGGGGGCCCAGCTGTGTGTTCTCCTGTTCTGAGGCTGGGCGGGGGGC GGGGGACGTTGGGAGGGTCCCTGGGGGCCCAGCTGTGCGTTCTCCTGTTC TGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCAG CTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PERM1_chr1_970198_987093	977728	A A	ACCAACCC others(612): Show ACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCT CCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCG AGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGAGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACCACCCCG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0191 a0002c0005t0004g0191	1	141	0.0071	619	c.215 others(638): Show c.2150-1105_2150-1104insCGGGGTGGTGGGAGGCGGTTCCCGGG GTTGCGGGGGGAGTGGGAGGCGGTTCTCGGGGTTGGTGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGC GGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGG TTCCCGGGGTTGGCGGGGTGGTGGGAGGCGGTTCCCGGGGTTGCGGGGGG AGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCG GGGTTGGCGGGGTGGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGG AGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGG CGGGGTGGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGT TCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGA GTGGGAGGCGGTTCCCGGGATTGGGGGTCGTGGGAGGCGGTTCTCGGGGT TGGCGGGGTGGTGGGAGGCGGTTCCCGGGATTGGGGGTCGTGGGAGGCGG TTCCCGGGGTTGGTCGGTGGGGGCAGGCGGTTCCCGGGGTTGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PIAS4_chr19_4002736_4044386	4011922	T T	TGTGTTTG others(612): Show TGTGTTTGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGA GGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGG AGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGGGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTG GAGGTGTGTTTGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0278 a0003c0011t0001g0278	1	313	0.0032	619	c.28- others(632): Show c.28-997_28-996insTTGGTGTGGAGGTGTGTTTGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTTTGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PLEKHN1_chr1_961482_980865	977728	A A	ACCAACCC others(612): Show ACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCT CCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCG AGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGAGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACCACCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0009 a0001c0009t0009	a0001c0009t0009g0016 a0001c0009t0009g0016	1	146	0.0068	619	c.31 others(630): Show c.3153_*3154insCCAACCCCGGGAACCGCCTGCCCCCACCGACCAA CCCCGGGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACC ACCCCGCCAACCCCGAGAACCGCCTCCCACGACCCCCAATCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACCACCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCC CGCCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACCACCCCGCCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCG GGAACCGCCTCCCACTCCCCCCACCAACCCCGAGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACCACCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1864		chr1	TogoVar

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