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
DLGAP2_chr8_732628_1713476	977716	A A	ATGTGGGG others(205): Show ATGTGGGGAGGGCGTCGGGGATGCAGTGAGGGGCTGGGTTCTGGTCTTTG GTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAGGGGCTGCGTTCTGGTCT TTGGTGACGTGGGGAGGGCGTCGGGGATGCAGTGAGGAGCTGGGTTCTGG TCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAGGGGCTGGGTTC TGGTCTTTGGTGT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	212	c.73+ others(229): Show c.73+69833_73+69834insGGCTGCGTTCTGGTCTTTGGTGACGTGG GGAGGGCGTCGGGGATGCAGTGAGGAGCTGGGTTCTGGTCTTTGGTGTTG TGGGGAGGGCGTCGGGGATGCAGTGAGGGGCTGGGTTCTGGTCTTTGGTG TTGTGGGGAGGGCGTCGGGGATGCAGTGAGGGGCTGGGTTCTGGTCTTTG GTGTTGTGGGGAGGGCGTCGGGGATGCAGTGAGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	977853	G G	GGCTGGGT others(205): Show GGCTGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCAGTG AGGTGCTGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGATGCA GTGAGGGGCTGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGGGAT GCAGTGAGAGGGTGGGTTCTGGTCTTTGGTGTTGTGGGGAGGGCGTCGGG GATGCAGTGAGGT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	40	0.0250	212	c.73+ others(229): Show c.73+69891_73+69892insGGTTCTGGTCTTTGGTGTTGTGGGGAGG GCGTCGGGGATGCAGTGAGGTGCTGGGTTCTGGTCTTTGGTGTTGTGGGG AGGGCGTCGGGGATGCAGTGAGGGGCTGGGTTCTGGTCTTTGGTGTTGTG GGGAGGGCGTCGGGGATGCAGTGAGAGGGTGGGTTCTGGTCTTTGGTGTT GTGGGGAGGGCGTCGGGGATGCAGTGAGGTGCTG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1384950	G G	GCACAGTT others(205): Show GCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGAACTTGGTGCACAGTT ACCCCGGCCTGTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGC CTGTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCT GTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATACCCGGCCCCTG AGAGCTTGGTGCA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0004 a0001c0014t0004	a0001c0014t0004g0036 a0001c0014t0004g0036	1	40	0.0250	212	c.107 others(233): Show c.107-116414_107-116413insCAGTTACCCCGGCCTATGCCCGGC CCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCCGGCCCCTGAGA ACTTGGTGCACAGTTACCCCGGCCTGTGCCCGGCCCCTGAGAACTTGGTG CACAGTTACCCCGGCCTATGCCTGTCCCCTGAGAACTTGGTGCACAGTTA CCCCGGCCTATACCCGGCCCCTGAGAGCTTGGTGCACA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1384950	G G	GCACAGTT others(205): Show GCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGAACTTGGTGCACAGTT ACCCCGGCCTGTGCGCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGC CTGTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCT GTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATACCCGGCCCCTG AGAGCTTGGTGCA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0038 a0003c0007t0007g0038	1	40	0.0250	212	c.107 others(233): Show c.107-116414_107-116413insCAGTTACCCCGGCCTATGCCCGGC CCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCGCGGCCCCTGAGA ACTTGGTGCACAGTTACCCCGGCCTGTGCCCGGCCCCTGAGAACTTGGTG CACAGTTACCCCGGCCTATGCCTGTCCCCTGAGAACTTGGTGCACAGTTA CCCCGGCCTATACCCGGCCCCTGAGAGCTTGGTGCACA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	33010108	A A	ATGTGTAT others(205): Show ATGTGTATGTACACACGTGTGTGCACATGTGTATGTACACACGTGTGTGC ACATGTGTATGTACACACGTGTGTGCACATGTGTATGTACACACGTGTGT GCACATGTGTATGTACACACGTGTGTGCACATGTGTATGTACACACGTGT GTGCACATGTGTGTGTACACACGTGTGTGCACATGTGTGTGTACACACGT GTGTGCACATGTG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	126	0.0079	212	c.93+ others(229): Show c.93+10030_93+10031insCACATGTGCACACACGTGTGTACACACA CATGTGCACACACGTGTGTACACACACATGTGCACACACGTGTGTACATA CACATGTGCACACACGTGTGTACATACACATGTGCACACACGTGTGTACA TACACATGTGCACACACGTGTGTACATACACATGTGCACACACGTGTGTA CATACACATGTGCACACACGTGTGTACATACACA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DPEP1_chr16_89608642_89643433	89619226	T T	TCCCCTCC others(205): Show TCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCG CTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCC ATGCCCCCCGCTC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	250	0.0040	212	c.-10 others(231): Show c.-107+5510_-107+5511insCTCCCTGCAGCCCCCCTGCCCCCCCG CTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCC ATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCC CTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCT GCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DYM_chr18_49031387_49465645	49440638	T T	TTATATAT others(205): Show TTATATATGACTATATATTATATATTTATATATGACTATATATTATATAT ATAATATATGACTATATATTATATATATAACATATGACTATATATTATAT ATATATAACATATGACTATATATTATATATATATAACATATGACTATATA TTATATATATATAACATATGACTATATATTATATATATATAACATATGAC TATATATTATATA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	290	0.0035	212	c.-53 others(231): Show c.-53-10192_-53-10191insTATATAATATATAGTCATATGTTATA TATATATAATATATAGTCATATGTTATATATATATAATATATAGTCATAT GTTATATATATATAATATATAGTCATATGTTATATATATATAATATATAG TCATATGTTATATATATAATATATAGTCATATATTATATATATAATATAT AGTCATATATAAATATATAATATATAGTCATATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440994	A A	ATTTATAT others(205): Show ATTTATATAATATATGACTATATATTATATATTTATATAATATATGACTA TATATTATATATTTATATAATATATGACTATATATTATATATTTATATAA TATATGACTATATATTATATATTTATATAATATATTTATATAAATACATT ATATTTTATATATTTATATAAATACATTATATTTTATATATTTATATAAA TACATTATATTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0137 a0001c0001t0004g0137	1	290	0.0035	212	c.-53 others(231): Show c.-53-10548_-53-10547insAAAATATAATGTATTTATATAAATAT ATAAAATATAATGTATTTATATAAATATATAAAATATAATGTATTTATAT AAATATATTATATAAATATATAATATATAGTCATATATTATATAAATATA TAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATTA TATAAATATATAATATATAGTCATATATTATATAAA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EIF4G3_chr1_20801479_21181897	21180050	A A	ATATTACA others(205): Show ATATTACATAATATATTACATATATTATGTAATATATGTTATATATTACA TATAATATATTATATGTAATATATAATATATAATATATTATATATTATAC ATAATATATAATATATAATATATAATATATATATTATGTATAATATATAT ATAATATATTATACATAATATATAATATATATTATGTAATATATTACATA TATTATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	312	0.0032	212	c.-37 others(223): Show c.-3785_-3784insATTATATATAATATATGTAATATATTACATAATA TATATTATATATTATGTATAATATATTATATATATATTATACATAATATA TATATTATATATTATATATTATATATTATGTATAATATATAATATATTAT ATATTATATATTACATATAATATATTATATGTAATATATAACATATATTA CATAATATATGTAATATATTATGTAATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3154		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21180050	A A	ATATTACA others(205): Show ATATTACATAATATATTACATATATTATGTAATATATGTTATATATTACA TATAATATATTATATGTAATATATAATATATTATATATTATATATTATAC ATAATATATAATATATAATATATAATATATATATTATGTATAATATATAT ATAATATATTATACATAATATATAATATATATTATGTAATATATTACATA TATTATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01109.hp1 others(16): Show HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02145.hp1 HG02280.hp2 HG02486.hp2 HG02630.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp2 HG03471.hp1 HG03579.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0012 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0012 a0001c0004t0001 a0001c0004t0014	a0001c0001t0001g0114 a0001c0002t0001g0094 a0001c0002t0001g0096 others(16): Show a0001c0001t0001g0114 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0101 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0012g0296 a0001c0004t0001g0111 a0001c0004t0014g0109	19	312	0.0609	212	c.-37 others(223): Show c.-3785_-3784insATTATATATAATATATGTAATATATTACATAATA TATATTATATATTATGTATAATATATTATATATATATTATACATAATATA TATATTATATATTATATATTATATATTATGTATAATATATAATATATAAT ATATTATATATTACATATAATATATTATATGTAATATATAACATATATTA CATAATATATGTAATATATTATGTAATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3154		chr1	TogoVar
ELF2_chr4_139052265_139182218	139135152	C C	CTGATTAC others(205): Show CTGATTACAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC GCCCGGCTAATTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0030 a0001c0001t0009g0030	1	342	0.0029	212	c.72+ others(227): Show c.72+2477_72+2478insAAATTAGCCGGGCGCGGTGGCGGGCGCCTG TAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCG GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAATTTTGTAATCA	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	3/9			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084076	C C	CTATATAT others(205): Show CTATATATGATATATAACATATATATGATATATATGATATATACATGTTA TATATCATATATATCATATATATGATATATATGATATATAACATATATAA CATATATATGATATATATAACATATATGTGATGATATATATGATATATAT AACATATATGTGATGATATATATGATATATACATGTTATATATCATATAT ATCATATATATGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0153 a0001c0001t0018g0153	1	338	0.0030	212	c.221 others(231): Show c.221+21420_221+21421insTCATATATATGATATATATGATATAT AACATGTATATATCATATATATCATCACATATATGTTATATATATCATAT ATATCATCACATATATGTTATATATATCATATATATGTTATATATGTTAT ATATCATATATATCATATATATGATATATATGATATATAACATGTATATA TCATATATATCATATATATGTTATATATCATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ERC1_chr12_986223_1500931	1122523	A A	ATCTCTAT others(205): Show ATCTCTATCTCTATCTATCTCTATCTCTATCTCTATCTCTATCTCTATCT CTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGT GTCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTATCT CTATCTCTATCTCTATCTCTATCTCTATCTGTTTCTCTATCTCTATCTCT ATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0120 a0001c0001t0120	a0001c0001t0120g0024 a0001c0001t0120g0024	1	162	0.0062	212	c.156 others(231): Show c.1569+6505_1569+6506insATCTCTATCTCTATCTCTATCTCTAT CTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCT CTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCT ATCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTTTCTCTATCT CTATCTCTATCTCTATCTGTGTCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
EXD3_chr9_137301896_137428162	137355462	A A	AAAGGAGG others(205): Show AAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGAAAGGAG GAAGGAGGACGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGACGGAGG AAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGAAAGGAGG AAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGAGGAAGGAGGA CGGAGGAAGGAGG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0019 a0019	a0019c0015 a0019c0015	a0019c0015t0001 a0019c0015t0001	a0019c0015t0001g0019 a0019c0015t0001g0019	1	82	0.0122	212	c.758 others(227): Show c.758-690_758-689insCCTCCTTCCTCCGTCCTCCTTCCTCCTTTC TCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCT CCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCGTCCTCCTTCCT CCTTCCTCCATCCTCCTTCCTCCGTCCTCCTTCCTCCTTTCTCCTTCCTC CCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FAM53A_chr4_1634887_1689313	1671447	C C	CCACAGCC others(205): Show CCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCCACCAGC TCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCCACCAGC TCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCC ACCAGCTCACAGCCACAGCCACAGCCCGGACTCACCTCTGTCCCAGCGTC AGAGCCACCAGCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00642.hp1 others(26): Show HG00280.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG01074.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01257.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG02040.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02698.hp2 HG02735.hp2 HG03017.hp2 HG03453.hp2 HG03471.hp2 HG03710.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA20905.hp2 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0001c0021 a0008c0022 a0001c0002 a0001c0021 a0008c0022	a0001c0002t0004 a0001c0002t0015 a0001c0002t0017 others(3): Show a0001c0002t0004 a0001c0002t0015 a0001c0002t0017 a0001c0002t0059 a0001c0021t0004 a0008c0022t0004	a0001c0002t0004g0140 a0001c0002t0004g0144 a0001c0002t0004g0158 others(26): Show a0001c0002t0004g0140 a0001c0002t0004g0144 a0001c0002t0004g0158 a0001c0002t0004g0159 a0001c0002t0004g0207 a0001c0002t0004g0266 a0001c0002t0004g0282 a0001c0002t0004g0302 a0001c0002t0004g0303 a0001c0002t0004g0304 a0001c0002t0004g0305 a0001c0002t0004g0306 a0001c0002t0004g0308 a0001c0002t0004g0309 a0001c0002t0004g0310 a0001c0002t0004g0311 a0001c0002t0004g0317 a0001c0002t0004g0326 a0001c0002t0015g0015 a0001c0002t0015g0016 a0001c0002t0015g0050 a0001c0002t0015g0058 a0001c0002t0015g0059 a0001c0002t0017g0069 a0001c0002t0017g0096 a0001c0002t0017g0126 a0001c0002t0059g0307 a0001c0021t0004g0162 a0008c0022t0004g0322	29	350	0.0829	212	c.-16 others(231): Show c.-164-2543_-164-2542insAGCTGGTGGCTCTGACGCTGGGACAG AGGTGAGTCCGGGCTGTGGCTGTGGCTGTGAGCTGGTGGCTCTGACGCTG GGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAGCTGGTGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAGCTGGTGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTG	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	1/4			chr4	TogoVar
FAM53A_chr4_1634887_1689313	1671447	C C	CCACAGCC others(205): Show CCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCCACCAGC TTACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCCACCAGC TCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCC ACCAGCTCACAGCCACAGCCACAGCCCGGACTCACCTCTGTCCCAGCGTC AGAGCCACCAGCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp1 HG00738.hp1 others(20): Show HG00544.hp1 HG00621.hp1 HG00738.hp1 HG01070.hp2 HG01981.hp1 HG01981.hp2 HG02080.hp2 HG02132.hp1 HG02300.hp1 HG02735.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp2 NA18950.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA19009.hp2 NA19010.hp2 NA19080.hp2 NA19088.hp1	a0001 a0007 a0010 a0001 a0007 a0010	a0001c0002 a0007c0008 a0010c0020 a0001c0002 a0007c0008 a0010c0020	a0001c0002t0003 a0001c0002t0032 a0001c0002t0041 others(3): Show a0001c0002t0003 a0001c0002t0032 a0001c0002t0041 a0001c0002t0049 a0007c0008t0003 a0010c0020t0003	a0001c0002t0003g0153 a0001c0002t0003g0160 a0001c0002t0003g0161 others(20): Show a0001c0002t0003g0153 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0193 a0001c0002t0003g0194 a0001c0002t0003g0195 a0001c0002t0003g0197 a0001c0002t0003g0198 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0267 a0001c0002t0003g0271 a0001c0002t0003g0330 a0001c0002t0003g0333 a0001c0002t0003g0335 a0001c0002t0032g0017 a0001c0002t0041g0066 a0001c0002t0049g0332 a0007c0008t0003g0331 a0007c0008t0003g0334 a0010c0020t0003g0196	23	350	0.0657	212	c.-16 others(231): Show c.-164-2543_-164-2542insAGCTGGTGGCTCTGACGCTGGGACAG AGGTGAGTCCGGGCTGTGGCTGTGGCTGTGAGCTGGTGGCTCTGACGCTG GGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAGCTGGTGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTAAGCTGGTGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTG	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	1/4			chr4	TogoVar
FAM53A_chr4_1634887_1689313	1671447	C C	CCACAGCC others(205): Show CCACAGCCATGGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCCACCAGC TCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCCACCAGC TCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCC ACCAGCTCACAGCCACAGCCACAGCCCGGACTCACCTCTGTCCCAGCGTC AGAGCCACCAGCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA20752.hp2 HG00099.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0003 a0001c0002t0017g0003	2	350	0.0057	212	c.-16 others(231): Show c.-164-2543_-164-2542insAGCTGGTGGCTCTGACGCTGGGACAG AGGTGAGTCCGGGCTGTGGCTGTGGCTGTGAGCTGGTGGCTCTGACGCTG GGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAGCTGGTGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAGCTGGTGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCATGGCTGTG	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	1/4			chr4	TogoVar
FBN2_chr5_128252909_128543245	128540067	C C	CATATATC others(205): Show CATATATCATATATATCATATATATCATATATATCATATATATCATATAT ATCATATATCATATATCATATATATCATATATATCATATATATCATATAT ATCATATATATCATATATCATATATCATATATATCATATATCATATATAT CATATAATATATATCATATATATCATATATCTATATATATATCATATATA TCATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0020 a0020	a0020c0026 a0020c0026	a0020c0026t0008 a0020c0026t0008	a0020c0026t0008g0020 a0020c0026t0008g0020	1	236	0.0042	212	c.-24 others(223): Show c.-2465_-2464insATGATATATATGATATATATGATATATATATAGA TATATGATATATATGATATATATTATATGATATATATGATATATGATATA TATGATATATGATATATGATATATATGATATATATGATATATATGATATA TATGATATATATGATATATGATATATGATATATATGATATATATGATATA TATGATATATATGATATATATGATATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1823		chr5	TogoVar
FBRSL1_chr12_132485151_132590188	132556657	T T	TCCAACCG others(205): Show TCCAACCGCTGTCCTGTGGGACGCTCCTCTCCAGGCCTTCGTGCTGCACC CCCCTCCACCCACCCCCCTCCTGTGGGACGCTCCTCTCCAGGCCTTCATG CTGCCTCCAACCCCTGTCCTGTGGGACGCTCCTCTCCAGGCCTTCGTGCT GCACCCCCCCTCCACCCACCCCCCTCCTGTGGGACGCTCCTCTCCAGGCC TTCGTGCTGCACC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03669.hp1 HG02056.hp2 HG03669.hp1	a0002 a0020 a0002 a0020	a0002c0003 a0020c0112 a0002c0003 a0020c0112	a0002c0003t0004 a0020c0112t0009 a0002c0003t0004 a0020c0112t0009	a0002c0003t0004g0021 a0020c0112t0009g0129 a0002c0003t0004g0021 a0020c0112t0009g0129	2	348	0.0058	212	c.645 others(229): Show c.645+8631_645+8632insGCTGTCCTGTGGGACGCTCCTCTCCAGG CCTTCGTGCTGCACCCCCCTCCACCCACCCCCCTCCTGTGGGACGCTCCT CTCCAGGCCTTCATGCTGCCTCCAACCCCTGTCCTGTGGGACGCTCCTCT CCAGGCCTTCGTGCTGCACCCCCCCTCCACCCACCCCCCTCCTGTGGGAC GCTCCTCTCCAGGCCTTCGTGCTGCACCCCAACC	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXO11_chr2_47801920_47911498	47900693	T T	TGTATATA others(205): Show TGTATATATATACACGCATACACACACGTGTATATATATACACGCATACA CACACGTGTATATATATACACGCATACACACACGTGTATATATATACACG CATACACACACGTGTATATATATACACGCATACACACACGTGTATATATA TACACGCATACACACACGTGTATATATATACACGCATACACACACGTGTA TATATATACACGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	318	0.0031	212	c.232 others(229): Show c.232+4795_232+4796insGCGTGTATATATATACACGTGTGTGTAT GCGTGTATATATATACACGTGTGTGTATGCGTGTATATATATACACGTGT GTGTATGCGTGTATATATATACACGTGTGTGTATGCGTGTATATATATAC ACGTGTGTGTATGCGTGTATATATATACACGTGTGTGTATGCGTGTATAT ATATACACGTGTGTGTATGCGTGTATATATATAC	FBXO11	ENSG00000138081.22	transcript	ENST00000403359.8	protein_coding	1/22			chr2	TogoVar
FBXO34_chr14_55266421_55358611	55331803	T T	TATATATA others(205): Show TATATATATATATACACCACCGTGGTGTATATATAAAAATATATATATAC ACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTAT ATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATA TATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGG TGTATATATAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0321 a0001c0001t0007g0321	1	334	0.0030	212	c.-10 others(231): Show c.-10-18567_-10-18566insTACACCACCGTGGTGTATATATAAAA ATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACC ACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATA TAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATA	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FIGN_chr2_163597611_163741008	163660791	G G	GTATACAC others(205): Show GTATACACATATACATATATATGTATACACATATACATATATATGTATAT ACATATACATATATATGTATATACATATACATATATATGTATATACATAT ACATATATATGTATATACATATATATGTATACATATACATATATATGTAT ATACATATATATGTATACATATACATATACATATATATGTATATACATAT ACATATATATACA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0102 a0001c0001t0013g0102	1	266	0.0038	212	c.26- others(229): Show c.26-48986_26-48985insTGTATATATATGTATATGTATATACATA TATATGTATATGTATATGTATACATATATATGTATATACATATATATGTA TATGTATACATATATATGTATATACATATATATGTATATGTATATACATA TATATGTATATGTATATACATATATATGTATATGTATATACATATATATG TATATGTGTATACATATATATGTATATGTGTATA	FIGN	ENSG00000182263.14	transcript	ENST00000333129.4	protein_coding	2/2			chr2	TogoVar
FIRRM_chr1_169790040_169859080	169811811	G G	GATTATCT others(205): Show GATTATCTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGA TTATCTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATT ATCTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTAT CTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCT ATCTAAATAGATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02155.hp1 NA18945.hp1 others(3): Show HG00323.hp1 HG02155.hp1 NA18945.hp1 NA18948.hp1 NA18980.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0249 others(3): Show a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0249 a0001c0001t0004g0252 a0001c0001t0004g0262 a0001c0001t0004g0276	6	420	0.0143	212	c.702 others(229): Show c.702+3883_702+3884insTTATCTATCTAAATAGATAATAGATTAT CTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCT ATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTAT CTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCT AAATAGATAATAGATTATCTATCTAAATAGATAA	FIRRM	ENSG00000000460.17	transcript	ENST00000359326.9	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
FLT4_chr5_180596506_180654600	180634974	G G	GTGGGTGG others(205): Show GTGGGTGGGTGGATGGATGCATGGATGGAAGTATGGGTGGGTGGGTGGGT GGATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGATGGATGGATGG ATGGAAGTATGGGTGGAGGGGTGGGTGGATGGATGCATGGATGGATGGAA GTATGGGTGGATGGGTGGGTGGGTGAGAGGATGGATGCATGGATGGATGG AAGTATGGGTGGA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0296 a0002c0007t0004g0296	1	388	0.0026	212	c.59- others(227): Show c.59-3197_59-3196insTCCACCCATACTTCCATCCATCCATGCATC CATCCTCTCACCCACCCACCCATCCACCCATACTTCCATCCATCCATGCA TCCATCCACCCACCCCTCCACCCATACTTCCATCCATCCATCCATCCACC CACCCATCCACCCATACTTCCATCCATCCATCCACCCACCCACCCACCCA TACTTCCATCCATGCATCCATCCACCCACCCA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FOXQ1_chr6_1307098_1319758	1317072	G G	GCACCACC others(205): Show GCACCACCTCCCCCTCCCGCCCCCCCCCTCCAGCCTACCCCTCCCCCCGC CCACCCCCTCCTCCCCGCCTCCCCCCCAGCCTCCCTCCCCCGCCTCCCCC CGCCTCCCCCTCCCCCGCCCCCACACCCCCTCCTCCCGCCCCCCTCCAGC CTACCCTCCTCCCCCCACCCCCACCCATCACTCCTCCCGCCCACCCCTCC AGCCTACCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0011 a0011	a0011c0036 a0011c0036	a0011c0036t0001 a0011c0036t0001	a0011c0036t0001g0000 a0011c0036t0001g0000	1	406	0.0025	212	c.31 others(223): Show c.3156_*3157insCACCACCTCCCCCTCCCGCCCCCCCCCTCCAGCC TACCCCTCCCCCCGCCCACCCCCTCCTCCCCGCCTCCCCCCCAGCCTCCC TCCCCCGCCTCCCCCCGCCTCCCCCTCCCCCGCCCCCACACCCCCTCCTC CCGCCCCCCTCCAGCCTACCCTCCTCCCCCCACCCCCACCCATCACTCCT CCCGCCCACCCCTCCAGCCTACCCCTCC	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2315		chr6	TogoVar
GADL1_chr3_30721197_30899661	30763599	G G	GCTCAGAC others(205): Show GCTCAGACTTAGATGATTTTGCCCAACTATAGTCTAAGAGGAAGCCTATT TTATAATAGTGTTGCGTATCTCAGAATTTATTGAATACCATACGTTACAT CAAAATTGCAACAGTTTCTCACATTGTAAAGTTGAAAAATCCTTAGGTCT AAGCATTGTAAGTCTTAAAGACCATATCTTTATCTATCTCTCCATCTATA GAGATATAGATAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0241	1	282	0.0036	212	c.139 others(233): Show c.1392+14368_1392+14579dupTTATCTATATCTCTATAGATGGAG AGATAGATAAAGATATGGTCTTTAAGACTTACAATGCTTAGACCTAAGGA TTTTTCAACTTTACAATGTGAGAAACTGTTGCAATTTTGATGTAACGTAT GGTATTCAATAAATTCTGAGATACGCAACACTATTATAAAATAGGCTTCC TCTTAGACTATAGTTGGGCAAAATCATCTAAGTCTGAG	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	14/14			chr3	TogoVar
GAK_chr4_844277_937316	927418	G G	GTCCGCAC others(205): Show GTCCGCACCCCTCCCCGCTCACCTGCGGTCCGCACTGCCCCGCACCCCTC CCGGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGC AGTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCAGTCCGCACTGCC CCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCC CGCTCACCTGCGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG03471.hp1 HG01891.hp1 HG02280.hp2 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0002 a0001c0002t0001 a0001c0005t0002	a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0005t0002g0257 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0005t0002g0257	3	390	0.0077	212	c.145 others(229): Show c.145+4624_145+4625insGCGCAGGTGAGCGGGGAGGGGTGCGGGG CAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTGC AGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCCGGGA GGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCCGGGAGGGGTGCGGGGCA GTGCGGACCGCAGGTGAGCGGGGAGGGGTGCGGA	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241805963	T T	TCTGCAGG others(205): Show TCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCC CCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GAACCTCTGCAGGCCACCTTCCCTCCCTCCCCCTCAGCCCAGGGACCTCC GCAGGCCACTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	314	0.0032	212	c.17 others(223): Show c.1797_*1798insCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCTGCAGGCCACCTTCCCTCCCTCCCCCTC AGCCCAGGGACCTCCGCAGGCCACTCTC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1677		chr2	TogoVar
GALR1_chr18_77244848_77282900	77259174	G G	GATGGTGG others(205): Show GATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTG GTCACAGTGGTGGTGGTGTTGGTGTTGGTGGTGGTCATGATGGTCATGGT GGTGATGACGGTGGTGATGATGGTGGTCATGGTGGCGATTGTGGTGATGG TGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGTTGGTGGT GGTCATGGTGGTC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	366	0.0027	212	c.732 others(229): Show c.732+2959_732+2960insCATGGTGGCGATTGTGGTGATGGTGGTG GATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGTTGGTGGTGGTCA TGATGGTCATGGTGGTGATGACGGTGGTGATGATGGTGGTCATGGTGGCG ATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGGTGT TGGTGTTGGTGGTGGTCATGGTGGTCATGGTGGT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GFPT2_chr5_180295698_180358336	180299909	C C	CTGGTGGA others(205): Show CTGGTGGATAACCTAGAAATGTAGCTCCCAGCTTTCCAGCCCCTGTGATA CAGGTGAGGGCATAGGACAGGATGGTGGATAACTGGAAATGTAGCTCCCA GGTTTCCAGCCCCTGTGATACAGGTGAGGGCATAGGACAGAATGGTGGAT AACCTAGAAATGTAGCTCCCAGCTTTCCAGCCCCTGTGATACAGGTGAGG GCATAGGACAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02976.hp1 HG03130.hp1 HG02451.hp1 HG02976.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0006 a0001c0004t0001 a0001c0004t0006	a0001c0004t0001g0185 a0001c0004t0001g0190 a0001c0004t0006g0382 a0001c0004t0001g0185 a0001c0004t0001g0190 a0001c0004t0006g0382	3	412	0.0073	212	c.16 others(223): Show c.1654_*1655insTTCTGTCCTATGCCCTCACCTGTATCACAGGGGC TGGAAAGCTGGGAGCTACATTTCTAGGTTATCCACCATTCTGTCCTATGC CCTCACCTGTATCACAGGGGCTGGAAACCTGGGAGCTACATTTCCAGTTA TCCACCATCCTGTCCTATGCCCTCACCTGTATCACAGGGGCTGGAAAGCT GGGAGCTACATTTCTAGGTTATCCACCA	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		788		chr5	TogoVar
GP6_chr19_55008705_55043264	55033081	T T	TAGACACG others(205): Show TAGACACGGTGGGTTCGTTCGCGTTAGACACGGTGGGTTCGTTCGTGTTA AGACACGGAGGGCTCGTTCGTGTTAGACACAGAGGGCTCGTTCGTGTTAG ACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGAC GCGGAGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTGGTGTTAGACGC GGTGGGCTCGTTC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0022 a0022	a0022c0039 a0022c0039	a0022c0039t0010 a0022c0039t0010	a0022c0039t0010g0084 a0022c0039t0010g0084	1	441	0.0023	212	c.35- others(225): Show c.35-544_35-543insGAACGAGCCCACCGCGTCTAACACCAACGAGC CCACCGCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAGCCC ACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCTC TGTGTCTAACACGAACGAGCCCTCCGTGTCTTAACACGAACGAACCCACC GTGTCTAACGCGAACGAACCCACCGTGTCT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GPC5_chr13_91393621_92872237	91571886	C C	CGTGTGTG others(205): Show CGTGTGTGTGTGTATACACACATATACGTGTGTGTGTGTATACACACATA TACGTGTGTGTGTGTATACACACATATACGTGTGTGTGTGTATACACACA TATACGTGTGTGTGTGTATACACACATATACGTGTGTGTGTGTATACACA CATATACGTGTGTGTGTGTATACACACATATACGTGTGTGTGTGTATACA CACATATACGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	42	0.0238	212	c.326 others(233): Show c.326-121295_326-121294insGTGTGTATACACACATATACGTGT GTGTGTGTATACACACATATACGTGTGTGTGTGTATACACACATATACGT GTGTGTGTGTATACACACATATACGTGTGTGTGTGTATACACACATATAC GTGTGTGTGTGTATACACACATATACGTGTGTGTGTGTATACACACATAT ACGTGTGTGTGTGTATACACACATATACGTGTGTGTGT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPRIN1_chr5_176590802_176615156	176591689	A A	ATGATGGT others(205): Show ATGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTG ATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTT GTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATG GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02056.hp1 NA19084.hp2 HG02015.hp1 HG02056.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0009 a0001c0001t0001g0022	3	397	0.0076	212	c.51 others(223): Show c.5118_*5119insCCATCACAACCATCACCATCACCTCAACACCAAC ACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACACC AACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAAC ACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTC AACACCAACACCATCATCACCACCATCA	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		4112		chr5	TogoVar
GPRIN1_chr5_176590802_176615156	176591787	G G	GTGGTGTT others(205): Show GTGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTG ATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTG GTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATG GTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTG ATGGTGGTGATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	397	0.0025	212	c.50 others(223): Show c.5020_*5021insTCATCACCACCATCACCATCACAACCATCACCAT CACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCAC CATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCAT CACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAAC CATCACCATCACCTCAACACCAACACCA	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		4014		chr5	TogoVar
GRP_chr18_59215158_59235771	59233701	A A	ATATATAA others(205): Show ATATATAATATGTTATATAATATATAATATAATATATGATATATCACATG TTATATAATATATAATATATTATATAATATATTATATAACATATGATATA TCATATATTATATAACATGCTATATAACATATAACATGTTATATAACATG CTATATAACATATAACATGTTATATAACATGTTGTATAATATGTTATATA ATATGTTATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	408	0.0025	212	c.32 others(223): Show c.3233_*3234insTATATAATATGTTATATAATATATAATATAATAT ATGATATATCACATGTTATATAATATATAATATATTATATAATATATTAT ATAACATATGATATATCATATATTATATAACATGCTATATAACATATAAC ATGTTATATAACATGCTATATAACATATAACATGTTATATAACATGTTGT ATAATATGTTATATAATATGTTATATGT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		2931		chr18	TogoVar
GRP_chr18_59215158_59235771	59233701	A A	ATATATAA others(205): Show ATATATAATATGTTATATAATATATAATATAATATATGATATATCACATG TTATATAATATATAATATATTATATAATATATTATATAACATATGATATA TCATATATTATATAACATGTGATATAACATATAACATGTTATATAACATG CTATATAACATATAACATGTTATATAACATGTTGTATAATATGTTATATA ATATGTTATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	408	0.0025	212	c.32 others(223): Show c.3233_*3234insTATATAATATGTTATATAATATATAATATAATAT ATGATATATCACATGTTATATAATATATAATATATTATATAATATATTAT ATAACATATGATATATCATATATTATATAACATGTGATATAACATATAAC ATGTTATATAACATGCTATATAACATATAACATGTTATATAACATGTTGT ATAATATGTTATATAATATGTTATATGT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		2931		chr18	TogoVar
GRP_chr18_59215158_59235771	59233701	A A	ATATATAA others(205): Show ATATATAATATGTTATATAATATATAATATAATATATGATATATCACATG TTATATAATATATAATATATTATATAATATATTATATAACATATGATATA TCATATATTATATAACATGTTATATAACATATAACATATTATATAACATG CTATATAACATATAACATGTTATATAACATGTTGTATAATATGTTATATA ATATGTTATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03579.hp1 HG03486.hp2 HG03579.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0169 a0006c0008t0001g0170 a0001c0001t0001g0169 a0006c0008t0001g0170	2	408	0.0049	212	c.32 others(223): Show c.3233_*3234insTATATAATATGTTATATAATATATAATATAATAT ATGATATATCACATGTTATATAATATATAATATATTATATAATATATTAT ATAACATATGATATATCATATATTATATAACATGTTATATAACATATAAC ATATTATATAACATGCTATATAACATATAACATGTTATATAACATGTTGT ATAATATGTTATATAATATGTTATATGT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		2931		chr18	TogoVar
GRP_chr18_59215158_59235771	59233701	A A	ATATATAA others(205): Show ATATATAATATGTTATATAATATATAATATAATATATGATATATCACATG TTATATAATATATAATATATTATATAATATATTATATAACATATGATATA TCATATATTATATAACATGTTATATAACATATAACATGTTATATAACATG CTATATAACATATAACATGTTATATAACATGTTGTATAATATGTTATATA ATATGTTATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00544.hp2 others(105): Show HG00323.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18941.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18969.hp2 NA18971.hp2 NA18979.hp1 NA18981.hp1 NA18985.hp1 NA18992.hp2 NA18994.hp2 NA18997.hp1 NA18998.hp2 NA19010.hp2 NA19030.hp1 NA19054.hp1 NA19055.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19085.hp1 NA19088.hp1 NA19091.hp1 NA20300.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0004c0006	a0001c0001t0001 a0002c0002t0001 a0002c0003t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0002 a0004c0006t0001	a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0030 others(42): Show a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0069 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0024 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0068 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0003t0002g0023 a0002c0003t0002g0034 a0004c0006t0001g0072 a0004c0006t0001g0085	108	408	0.2647	212	c.32 others(223): Show c.3233_*3234insTATATAATATGTTATATAATATATAATATAATAT ATGATATATCACATGTTATATAATATATAATATATTATATAATATATTAT ATAACATATGATATATCATATATTATATAACATGTTATATAACATATAAC ATGTTATATAACATGCTATATAACATATAACATGTTATATAACATGTTGT ATAATATGTTATATAATATGTTATATGT	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		2931		chr18	TogoVar
GRP_chr18_59215158_59235771	59233723	T T	TATAATAT others(205): Show TATAATATAATATATGATATATCACATGTTATATAATATATAATATATTA TATAATATATTATATAACATATGATATATCATATATTATATAACATGTTA TATAACATATAACATGTTATATAACATGCTATATAACATATAACATGTTA TATAACATGTTGTATAATATGTTATATAATATGTTATATGTTATATAATA TGTTATATAATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	408	0.0025	212	c.32 others(223): Show c.3255_*3256insATAATATAATATATGATATATCACATGTTATATA ATATATAATATATTATATAATATATTATATAACATATGATATATCATATA TTATATAACATGTTATATAACATATAACATGTTATATAACATGCTATATA ACATATAACATGTTATATAACATGTTGTATAATATGTTATATAATATGTT ATATGTTATATAATATGTTATATAATAC	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		2953		chr18	TogoVar
GSE1_chr16_85608322_85681200	85653217	C C	CTCCTCCC others(205): Show CTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCC CCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCC CCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCT CCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCT CCTCCTCCCCCCT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0052 a0002c0052	a0002c0052t0003 a0002c0052t0003	a0002c0052t0003g0023 a0002c0052t0003g0023	1	290	0.0035	212	c.427 others(229): Show c.427-1061_427-1060insTCCTCCCCCCTCCTCCCCCCTCCTCCTC CCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC CCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CCCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
HERC6_chr4_88373852_88448097	88380374	T T	TATATATA others(205): Show TATATATAATATATAAATATATATAAATATATATATAATATATAAATATA TATAATATATAAATATATATATAATATATAAATATATATAATATATAAAT ATATATAATATATAAATATATATAATATATAAATATATAATATATAAATA TATATAATATATAAATATATAATATATAAATATATATAATATATAAATAT ATATATAATATAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18612.hp1 NA18941.hp2 HG03704.hp2 NA18612.hp1 NA18941.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0120 a0001c0001t0001g0133 a0002c0002t0001g0134 a0001c0001t0001g0120 a0001c0001t0001g0133 a0002c0002t0001g0134	3	174	0.0172	212	c.199 others(229): Show c.199+1261_199+1262insATATATAAATATATATAAATATATATAT AATATATAAATATATATAATATATAAATATATATATAATATATAAATATA TATAATATATAAATATATATAATATATAAATATATATAATATATAAATAT ATAATATATAAATATATATAATATATAAATATATAATATATAAATATATA TAATATATAAATATATATATAATATAAATATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HHIPL1_chr14_99640129_99685569	99673657	G G	GTGGTGCA others(205): Show GTGGTGCACTGAGGGGGTTGGCACAGAGGGGGTGGTGCACTGAGGGGGTT GGCACAGAGGGGGTGGTGCACTGAGGGGGGTGCACCTGGAGGGGTTGCAC TGAGGGGGGTGGAATGGAGGGGGGTGCACTGAGGGGGTGGCACGGAGGGG GTGGTGCATTAAGGGGGGTGGCATGGAGGGGGGGTGCACTGAGGGGGGTG GCACAGAGGGGGT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0300 a0002c0001t0001g0300	1	374	0.0027	212	c.181 others(231): Show c.1813+1258_1813+1259insTGGTGCACTGAGGGGGTTGGCACAGA GGGGGTGGTGCACTGAGGGGGTTGGCACAGAGGGGGTGGTGCACTGAGGG GGGTGCACCTGGAGGGGTTGCACTGAGGGGGGTGGAATGGAGGGGGGTGC ACTGAGGGGGTGGCACGGAGGGGGTGGTGCATTAAGGGGGGTGGCATGGA GGGGGGGTGCACTGAGGGGGGTGGCACAGAGGGGGT	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	8/8			chr14	TogoVar
HMGN1_chr21_39337315_39354088	39337376	A A	ATATATAA others(205): Show ATATATAATATATATATATATATAATATATTATATATATTATATATATAT TAATATAATATATTATATATAAATATATATATAATATATATATTAATATA TATATTATATATAATATATATATAATATATATAATATATATATTAATATA TATAATATATATATAATATATATATTATATATATAATATATATATTATAT ATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	414	0.0024	212	c.57 others(223): Show c.5735_*5736insATATATATTATATATATAATATATATATTATATA TATAATATATATATTATATATATATTATATATATTAATATATATATTATA TATATTATATATATATTATATATAATATATATATTAATATATATATTATA TATATATTTATATATAATATATTATATTAATATATATATAATATATATAA TATATTATATATATATATATATTATATA	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4938		chr21	TogoVar
HS3ST2_chr16_22809162_22921338	22819134	T T	TCCTTCCT others(205): Show TCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTC CTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCT TCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCTTCCTTCCCTCCT TCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01993.hp1 HG03492.hp1 HG00544.hp1 HG01993.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0185 a0001c0001t0001g0319 a0001c0002t0007g0044 a0001c0001t0001g0185 a0001c0001t0001g0319 a0001c0002t0007g0044	3	350	0.0086	212	c.485 others(229): Show c.485+4053_485+4054insCTCCTTCCTTCCTTCCTTCCCTCCTTCC TTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTT CCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCC TCCCTTCCTTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCTTCCTT CCCTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HTR2C_chrX_114579086_114915061	114761888	T T	TGTGTATA others(205): Show TGTGTATATATACATATATATGTATATATACGTGTATATATACATATATG TGTATATATACGTGTATATATACATATATGTGTATATATACGTGTATATA TACATATATGTGTATATATACACGTGTATATATACATATATGTGTATATA TACGTGTATATATACATATATGTGTATATATACGTGTATATATACATATA TGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	176	0.0057	212	c.349 others(231): Show c.349+30299_349+30300insATGTATATATACGTGTATATATACAT ATATGTGTATATATACGTGTATATATACATATATGTGTATATATACGTGT ATATATACATATATGTGTATATATACACGTGTATATATACATATATGTGT ATATATACGTGTATATATACATATATGTGTATATATACGTGTATATATAC ATATATGTGTATATATACGTGTATATATACATATAT	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33323277	A A	ATGTATAT others(205): Show ATGTATATATATGGAATGTATATATATGGAATGTATATATATGGAATGTA TATATATGGAATGTATATATATGGAATGTATATATATGGAATGTATATAT ATGGAATGTATATATATGGAATGTATATATATGGAATGTATATATATGGA ATGTATATATATGGAATGTATATATATGGAATGTATATATATGGAATGTA TATATATGGAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	323	0.0031	212	c.-17 others(223): Show c.-1779_-1778insTGTATATATATGGAATGTATATATATGGAATGTA TATATATGGAATGTATATATATGGAATGTATATATATGGAATGTATATAT ATGGAATGTATATATATGGAATGTATATATATGGAATGTATATATATGGA ATGTATATATATGGAATGTATATATATGGAATGTATATATATGGAATGTA TATATATGGAATGTATATATATGGAATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1692		chr21	TogoVar
INF2_chr14_104684618_104727535	104685973	G G	GGGTGGGT others(205): Show GGGTGGGTAGGTGGATGGATGGATGGGTAGGTGGGTGGATAGGTGGGTGG GTAGGTGGGTGGGTGGATGGACAAATAGATGGGCAGATGGATGGATGAGG GTGGGTGGATCAGTCGGTGGGTAGGTGGTTAGATGGGTGGATGAGTGGAT GATGGGTAGGTGGATGGGTAGATGGATGAAGGGATGGGCAGATGGATGGA TGAGTAGATGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0092 a0001c0001t0012g0092	1	380	0.0026	212	c.-37 others(223): Show c.-3776_-3775insGGTGGGTAGGTGGATGGATGGATGGGTAGGTGGG TGGATAGGTGGGTGGGTAGGTGGGTGGGTGGATGGACAAATAGATGGGCA GATGGATGGATGAGGGTGGGTGGATCAGTCGGTGGGTAGGTGGTTAGATG GGTGGATGAGTGGATGATGGGTAGGTGGATGGGTAGATGGATGAAGGGAT GGGCAGATGGATGGATGAGTAGATGATA	INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding		3644		chr14	TogoVar
INPP5A_chr10_132532787_132788480	132772426	A A	ACACTCAG others(205): Show ACACTCAGCACTGACACGGAGGCCCCGGCAGCCGCCCCATGAAGAGTGGG ACGGACACTCAGCACTGACACGGAGGCCCCGGCAGCCGCCCCATGAAGAG TGGGACGGACACTCAGCACTGACACGGAGGCCCCGGCAGCCACCCCATGA AGAGTGGGACGGACACTCAGCACTGACACAGAGGCCCCGGCAGCCGCCCC ATGAAGAGTGGGG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	204	0.0049	212	c.978 others(229): Show c.978-5229_978-5228insGGAGGCCCCGGCAGCCGCCCCATGAAGA GTGGGACGGACACTCAGCACTGACACGGAGGCCCCGGCAGCCGCCCCATG AAGAGTGGGACGGACACTCAGCACTGACACGGAGGCCCCGGCAGCCACCC CATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCCCGGCAGCC GCCCCATGAAGAGTGGGGCACTCAGCACTGACAC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INS_chr11_2154779_2166209	2161948	C C	CACCCCTG others(205): Show CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCT GTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTG TCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAGG ACCCTGTCCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	376	0.0027	212	c.-79 others(221): Show c.-799_-798insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGT GGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCCGGGGGACAGGGGTGT GGGGACAGGGGTGTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		740		chr11	TogoVar
IRAK2_chr3_10159919_10248745	10224728	C C	CCATCCAT others(205): Show CCATCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCC GTCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCAC CCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCT GTCCACCCATGTACCCACCCTCCCACCAACCCACCCACCCATCCATTTAT CCACCTACCCACA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0095 a0003c0004t0001g0095	1	292	0.0034	212	c.121 others(231): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCCGTCCACCCATCCATCCACCCACCCACCCACCCATCCATCCA CCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATGTACCCACCCTCCCACCAACCCACCCACCCA TCCATTTATCCACCTACCCACACATCCATCCATCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar

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