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
DYM_chr18_49031387_49465645	49440994	A A	ATTTATAT others(175): Show ATTTATATAATATATGACTATATATTATATATTTATATAATATATGACTA TATATTATATATTTATATAATATATGACTATATATTATATATTTATATAA TATATTTATATAAATACATTATATTTTATATATTTATATAAATACATTAT ATTTTATATATTTATATAAATACATTATATTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0136 a0001c0001t0004g0136	1	290	0.0035	182	c.-53 others(201): Show c.-53-10548_-53-10547insAAAATATAATGTATTTATATAAATAT ATAAAATATAATGTATTTATATAAATATATAAAATATAATGTATTTATAT AAATATATTATATAAATATATAATATATAGTCATATATTATATAAATATA TAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATTA TATAAA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYSF_chr2_71448561_71691763	71479156	T T	TAAGAGCC others(175): Show TAAGAGCCAACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01175.hp2 others(6): Show HG00642.hp1 HG00735.hp2 HG01175.hp2 HG01255.hp1 HG01433.hp2 HG01934.hp1 HG01978.hp1 HG02004.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0025 a0001c0080	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0025t0001 a0001c0080t0001	a0001c0001t0001g0110 a0001c0002t0001g0119 a0001c0003t0001g0111 others(6): Show a0001c0001t0001g0110 a0001c0002t0001g0119 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0001g0117 a0001c0003t0001g0121 a0001c0025t0001g0115 a0001c0080t0001g0010	9	192	0.0469	182	c.89- others(197): Show c.89-1720_89-1719insAACCCAAATACGTGGTAGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAG CC	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	1/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71479156	T T	TAAGAGCC others(175): Show TAAGAGCCAACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01175.hp1 others(7): Show HG00642.hp2 HG00735.hp2 HG01175.hp1 HG01255.hp1 HG01433.hp2 HG01934.hp2 HG01978.hp2 HG02004.hp2 HG03654.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0025 a0001c0086	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 a0001c0025t0001 a0001c0086t0001	a0001c0001t0001g0005 a0001c0002t0001g0017 a0001c0003t0001g0006 others(7): Show a0001c0001t0001g0005 a0001c0002t0001g0017 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0014 a0001c0003t0001g0039 a0001c0009t0001g0053 a0001c0025t0001g0012 a0001c0086t0001g0198	10	208	0.0481	182	c.92- others(197): Show c.92-1720_92-1719insAACCCAAATACGTGGTAGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAG CC	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	1/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIF4G3_chr1_20801479_21181897	21179961	T T	TATTGTAT others(175): Show TATTGTATATTATATAATATATAATATATGTAATATATTATGTAATATAT TATATAATATATATTATATATTATATATAATATATATTACATAATATATT ACATATATTATGTAATATATGTTATATATTACATATAATATATTATATGT AATATATAATATATTATATATTATATATTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG02683.hp2 HG02698.hp2 HG00140.hp2 HG02683.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160	3	312	0.0096	182	c.-36 others(193): Show c.-3696_-3695insGTATAATATATAATATATAATATATTATATATTA CATATAATATATTATATGTAATATATAACATATATTACATAATATATGTA ATATATTATGTAATATATATTATATATAATATATAATATATATTATATAA TATATTACATAATATATTACATATATTATATATTATATAATATACAAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3065		chr1	TogoVar
EIPR1_chr2_3183970_3382818	3316029	C C	CACCATCC others(175): Show CACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATACACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCATACACACCCCCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0074 a0001c0004t0001g0074	1	250	0.0040	182	c.259 others(201): Show c.259+21987_259+21988insAGGGGGTGTGTATGGGGATGGTGGTG ATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAG GGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGG GGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAG GATGGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELOVL6_chr4_110040846_110203615	110084065	A A	ACATATAT others(175): Show ACATATATATGATATATATGATATATACATGTTATATATCATATATATCA TATATATGTTATATATGATATATAACATATATATGATATATATTATATAT ATAACATATATGTGATGATATATATGATATATATAACATATATATGATAT ATATGATATATACATGTTATATATCATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03041.hp2 HG03130.hp1 others(2): Show HG02145.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0057 a0001c0001t0001 a0001c0001t0007 a0001c0001t0057	a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0001g0072 others(2): Show a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0007g0013 a0001c0001t0057g0109	5	338	0.0148	182	c.221 others(201): Show c.221+21431_221+21432insATATATATGATATATAACATGTATAT ATCATATATATCATATATATGTTATATATATCATATATATCATCACATAT ATGTTATATATATAATATATATCATATATATGTTATATATCATATATAAC ATATATATGATATATATGATATATAACATGTATATATCATATATATCATA TATATG	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ERRFI1_chr1_8006727_8031309	8027004	C C	CAGTGTGG others(175): Show CAGTGTGGGACGGTGAGGGACAGTGTGGGACGGTGAGGGACAGTGTGGGA CGGTGAGGGACAGTGTGGGACGGTGAGGGACAGTGAGGGACTGTGTAGGA CAGTGAGGGACAGTGTGGGACGGTGAGGGACAGTGAGGGACAGTGTAGGA CAGTGAGGGACAGTGTGGGACGGTGAGGGACTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG00140.hp1 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0010 a0001c0001t0003g0007 a0001c0001t0003g0010	2	402	0.0050	182	c.-92 others(191): Show c.-921_-920insCAGTCCCTCACCGTCCCACACTGTCCCTCACTGTCC TACACTGTCCCTCACTGTCCCTCACCGTCCCACACTGTCCCTCACTGTCC TACACAGTCCCTCACTGTCCCTCACCGTCCCACACTGTCCCTCACCGTCC CACACTGTCCCTCACCGTCCCACACTGTCCCTCACCGTCCCACACT	ERRFI1	ENSG00000116285.13	transcript	ENST00000377482.10	protein_coding		696		chr1	TogoVar
ESPNL_chr2_238095340_238138287	238098559	G G	GCATAGGA others(175): Show GCATAGGACCGCCCACATGGGAACGCCCACATGGGAACGCCCACATAGGA CCGCCCACATAGGACCGCCCACATGGGAACGCCCACATAGAACCGCCCAC ATAGGACCGCCCACATGGGACCGCCCACATAGAACCGTCCACATGGGACC GCCCACATGGGAACGCCCACATAGAACCGCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0090 a0001c0005t0003g0090	1	408	0.0025	182	c.-18 others(193): Show c.-1861_-1860insCATAGGACCGCCCACATGGGAACGCCCACATGGG AACGCCCACATAGGACCGCCCACATAGGACCGCCCACATGGGAACGCCCA CATAGAACCGCCCACATAGGACCGCCCACATGGGACCGCCCACATAGAAC CGTCCACATGGGACCGCCCACATGGGAACGCCCACATAGAACCGCCCA	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		1780		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098563	A A	AGGACCGC others(175): Show AGGACCGCCCACATAGGAACGCCCACATGGGAACGCCCACATGGGACCGC CCACATGGGAACGCCCACATGGGAACGCCCACATAGGAACGCCCACATAG GAACGCCCACATGGGAACGCCCACATGGGACCGCCCACATGGGACCGCCC ACATGGGACCGCCCACATAGAACCGTCCACATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0012 a0012	a0012c0034 a0012c0034	a0012c0034t0001 a0012c0034t0001	a0012c0034t0001g0203 a0012c0034t0001g0203	1	408	0.0025	182	c.-18 others(193): Show c.-1857_-1856insGGACCGCCCACATAGGAACGCCCACATGGGAACG CCCACATGGGACCGCCCACATGGGAACGCCCACATGGGAACGCCCACATA GGAACGCCCACATAGGAACGCCCACATGGGAACGCCCACATGGGACCGCC CACATGGGACCGCCCACATGGGACCGCCCACATAGAACCGTCCACATG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		1776		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098619	G G	GGGAACGC others(175): Show GGGAACGCCCACATGGGAACGCCCACATAGGAACGCCCACATGGGAACGC CCACATGGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCACATAG AACCGTCCACATGGGACCGCCCACATGGGACCGCCCACATAGAACCGTCC ACATAGGACCGCCCACATGGGAACGCCCACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02647.hp2 HG01891.hp1 HG02280.hp2 HG02647.hp2	a0003 a0012 a0003 a0012	a0003c0079 a0012c0034 a0003c0079 a0012c0034	a0003c0079t0014 a0012c0034t0014 a0003c0079t0014 a0012c0034t0014	a0003c0079t0014g0199 a0012c0034t0014g0201 a0012c0034t0014g0202 a0003c0079t0014g0199 a0012c0034t0014g0201 a0012c0034t0014g0202	3	408	0.0074	182	c.-18 others(193): Show c.-1801_-1800insGGAACGCCCACATGGGAACGCCCACATAGGAACG CCCACATGGGAACGCCCACATGGGACCGCCCACATGGGACCGCCCACATG GGACCGCCCACATAGAACCGTCCACATGGGACCGCCCACATGGGACCGCC CACATAGAACCGTCCACATAGGACCGCCCACATGGGAACGCCCACATA	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		1720		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238118348	A A	ATGGATGG others(175): Show ATGGATGGAGGAGGAATGGATGGAGGAATGGATGGTGGAGGATGGTTGGA GGAGGGCAGATGGAGCAGCAGATGGATGGAGGAGGGTGGATGGAGGAGGA ATGGATGGAGGAATGGATGGTGGAGGGTGGATGGAGGAGGAATGGATGGA GGAGGGTAGATGGAGGAGGGTGGGTGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18522.hp1 HG02486.hp1 NA18522.hp1	a0002 a0008 a0002 a0008	a0002c0085 a0008c0023 a0002c0085 a0008c0023	a0002c0085t0007 a0008c0023t0010 a0002c0085t0007 a0008c0023t0010	a0002c0085t0007g0092 a0008c0023t0010g0091 a0002c0085t0007g0092 a0008c0023t0010g0091	2	408	0.0049	182	c.987 others(199): Show c.987+1340_987+1341insATGGATGGTGGAGGATGGTTGGAGGAGG GCAGATGGAGCAGCAGATGGATGGAGGAGGGTGGATGGAGGAGGAATGGA TGGAGGAATGGATGGTGGAGGGTGGATGGAGGAGGAATGGATGGAGGAGG GTAGATGGAGGAGGGTGGGTGGAGAAGGTGGATGGAGGAGGAATGGATGG AGGA	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
EXD3_chr9_137301896_137428162	137329606	G G	GCTGCACG others(175): Show GCTGCACGGGGCTGCACGGGACTGCACGGGGCTACACGGGGCTACACGGG GCTGCACGGGACTGCACGGGACTACACGGGACTACACGGGACTCCACGGG ACTCCACGGGAGCTACACGGGACTCCACGGGACTCCACGGGACTCCACGG GACTCCACGGGAGCTACACGGGACTACACAGGA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0058 a0004c0004t0001g0058	1	82	0.0122	182	c.199 others(201): Show c.1999-5464_1999-5463insTCCTGTGTAGTCCCGTGTAGCTCCCG TGGAGTCCCGTGGAGTCCCGTGGAGTCCCGTGGAGTCCCGTGTAGCTCCC GTGGAGTCCCGTGGAGTCCCGTGTAGTCCCGTGTAGTCCCGTGCAGTCCC GTGCAGCCCCGTGTAGCCCCGTGTAGCCCCGTGCAGTCCCGTGCAGCCCC GTGCAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXOC4_chr7_133248078_134070761	133896831	A A	ATTTTTGT others(175): Show ATTTTTGTTTTTTTTTTGTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTATGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03516.hp1 HG02717.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0014 a0001c0002t0001 a0001c0003t0014	a0001c0002t0001g0101 a0001c0003t0014g0049 a0001c0002t0001g0101 a0001c0003t0014g0049	2	102	0.0196	182	c.187 others(201): Show c.1871+1103_1871+1104insTTTTTTTTTGTTTTTTTTTTTTTTTG AGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATT TTTTGT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133896831	A A	ATTTTTGT others(175): Show ATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTATGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02280.hp1 HG02896.hp1 others(1): Show HG00738.hp2 HG02280.hp1 HG02896.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0003 a0001c0003t0004 a0001c0002t0001 a0001c0002t0003 a0001c0003t0004	a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0003g0056 others(1): Show a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0003g0056 a0001c0003t0004g0093	4	102	0.0392	182	c.187 others(201): Show c.1871+1103_1871+1104insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATT TTTTGT	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EYA4_chr6_133236357_133537128	133410619	T T	TAGAACTA others(175): Show TAGAACTAAGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	264	0.0038	182	c.83+ others(199): Show c.83+28192_83+28193insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGAGAACTAAGG TCTT	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
FBXO15_chr18_74068368_74152834	74087517	T T	TAAGATAA others(175): Show TAAGATAATGGCCTCTACGGAGCTTGCAGTGAGCCGAGATCCCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	324	0.0031	182	c.113 others(201): Show c.1139-5467_1139-5466insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGTAGAGGCCAT TATCTT	FBXO15	ENSG00000141665.13	transcript	ENST00000419743.7	protein_coding	8/9			chr18	TogoVar
FLT3_chr13_27998274_28105576	27998863	T T	TATATTTA others(175): Show TATATTTATATACATATAAATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATATA TATACATATAAATATATATATTTATATACATATAAATATATATATTTATA TACATATAAATATATATATTTATATACATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0162 a0002c0002t0002g0162	1	292	0.0034	182	c.51 others(193): Show c.5188_*5189insTTATATGTATATAAATATATATATTTATATGTAT ATAAATATATATATTTATATGTATATAAATATATATATTTATATGTATAT ATATATATATTTATATGTATATAAATATATATATTTATATGTATATAAAT ATATATATTTATATGTATATAAATATATATTTATATGTATATAAATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4410		chr13	TogoVar
FOXP1_chr3_70949708_71588728	71396955	T T	TATATATA others(175): Show TATATATATATACACACATATATATGTGTGTATATATATATATACACATA TATATATGTGTGTATATATATATACACATATATATGTGTATATATATATA CATATATATGTGTATATATACACACATATATATATGTGTATATATATATA CACACATATATATATGTGTATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0090 a0001c0001t0041g0090	1	96	0.0104	182	c.-16 others(203): Show c.-167-37712_-167-37711insGTGTATATATATATACACATATAT ATATGTGTGTATATATATATACACATATATATATGTGTGTATATATACAC ATATATATGTATATATATATACACATATATATGTGTATATATATATACAC ACATATATATATGTGTATATATATATATACACACATATATATGTGTGTAT ATATATAT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71396971	T T	TATATATA others(175): Show TATATATATACACATATATATGTGTGTATATATATATATACACACATATA TATATGTGTATATATATATACATATATATATGTGTATATATATATATATA TATACACATATATATGTGTATATATATATACACATATATATGTGTATATA TATACACATATATATGTGTATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0034 a0001c0001t0062g0034	1	96	0.0104	182	c.-16 others(203): Show c.-167-37728_-167-37727insGTGTGTATATATATACACATATAT ATGTGTATATATATACACATATATATGTGTATATATATATACACATATAT ATGTGTATATATATATATATATATACACATATATATATGTATATATATAT ACACATATATATATGTGTGTATATATATATATACACACATATATATGTGT ATATATAT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435687	G G	GGGACGGA others(175): Show GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGAGGG AGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAG GGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGG AGGGAGGAAGGGACGGAGGGAGGAGGAAGGGAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0056 a0001c0001t0004g0056	1	96	0.0104	182	c.-16 others(203): Show c.-168+57738_-168+57739insGTCCCTTCCTCCTCCCTCCGTCCC TTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCTTCCCTC CCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCC TTCCTCCCTCCCTCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FRMPD4_chrX_12133473_12729523	12332041	C C	CTATATAT others(175): Show CTATATATAAATATATATATTTATATACTATATATAAATTATATATATTT ATATACTATATATAAATTATATAATTTATATACTATATATAAATTATATA TATTTATATACTATATATAAATTATATATATTATATATTTATATACTATA TATAAATTATATATATTATATATTTATATACTA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03453.hp1 HG02280.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0002g0029 a0002c0004t0001g0007 a0001c0001t0002g0029 a0002c0004t0001g0007	2	174	0.0115	182	c.42- others(201): Show c.42-166628_42-166627insATATATATTTATATACTATATATAAA TTATATATATTTATATACTATATATAAATTATATAATTTATATACTATAT ATAAATTATATATATTTATATACTATATATAAATTATATATATTATATAT TTATATACTATATATAAATTATATATATTATATATTTATATACTATATAT ATAAAT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
GAK_chr4_844277_937316	927233	C C	CGCACTGC others(175): Show CGCACTGCCCCGCACCCCTCCCGGCTCACCTGCAGTCCCCACTGCCTCGC CCCCCTCCCCGCTCACCTGCAGTCCCCACTGCCCCGCACCCCTCCCCGCT CACCTGCAGTCCGCACTGCCCCACACCCCTCCCGGCTCACCTGCGGTCCG CACTGCCCCGCACCCCTCCCGGCTCACCTGCAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03195.hp2 HG02818.hp2 HG03195.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0261 a0004c0009t0001g0262 a0004c0009t0001g0261 a0004c0009t0001g0262	2	390	0.0051	182	c.145 others(199): Show c.145+4809_145+4810insCTGCAGGTGAGCCGGGAGGGGTGCGGGG CAGTGCGGACCGCAGGTGAGCCGGGAGGGGTGTGGGGCAGTGCGGACTGC AGGTGAGCGGGGAGGGGTGCGGGGCAGTGGGGACTGCAGGTGAGCGGGGA GGGGGGCGAGGCAGTGGGGACTGCAGGTGAGCCGGGAGGGGTGCGGGGCA GTGC	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GARIN5B_chr19_55349908_55368260	55360293	C C	CAGGAGTC others(175): Show CAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGC CCCAGCTCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCAGCTCCTCCTC CCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACTGAGG AGTCCAGGCCCCAGTCTCTCCTCCCTCAGACTG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02155.hp1 HG02074.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0068 a0001c0001t0002g0069 a0001c0001t0001g0068 a0001c0001t0002g0069	2	356	0.0056	182	c.889 others(197): Show c.889-315_889-314insCAGTCTGAGGGAGGAGAGACTGGGGCCTGG ACTCCTCAGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGTCTG AGGGAGGAGGAGCTGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGAGCT GGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTC CT	GARIN5B	ENSG00000180043.11	transcript	ENST00000424985.3	protein_coding	8/10			chr19	TogoVar
GCNT2_chr6_10516351_10634368	10606603	C C	CTTCCATT others(175): Show CTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAATGGA AATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAATG GAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAA TGGAAATTTCCATTAAAGAAATTTAATGGAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp1 HG02647.hp2 others(4): Show HG01884.hp2 HG02630.hp1 HG02647.hp2 HG02976.hp2 HG03098.hp1 HG03516.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0226 others(4): Show a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0226 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0011g0002	7	324	0.0216	182	c.926 others(201): Show c.926-14676_926-14675insGGAAATTTCCATTAAAGAAATTTAAT GGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTA ATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATT TAATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAA TTTAAT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10606603	C C	CTTCCATT others(175): Show CTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAATGGA AATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAATG GAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTAA TGGAAATTTCCATTAAAGAAATTTAATGGAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp2 HG02976.hp2 others(3): Show HG01884.hp2 HG02630.hp2 HG02976.hp2 HG03098.hp1 HG03516.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0090 a0001c0001t0001g0292 a0001c0001t0001g0321 others(3): Show a0001c0001t0001g0090 a0001c0001t0001g0292 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0333 a0001c0002t0001g0283	6	344	0.0174	182	c.920 others(201): Show c.920-14676_920-14675insGGAAATTTCCATTAAAGAAATTTAAT GGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATTTA ATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAATT TAATGGAAATTTCCATTAAAGAAATTTAATGGAAATTTCCATTAAAGAAA TTTAAT	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GLIS2_chr16_4311067_4344595	4344385	T T	TCTGTGTG others(175): Show TCTGTGTGAGAAGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGA GGGGGTTCTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTG AGAGGAGGGGGTTCTCTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTC TGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02523.hp2 HG02071.hp1 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0103 a0001c0002t0001g0052 a0001c0002t0001g0103	2	395	0.0051	182	c.68 others(193): Show c.6861_*6862insCTGTGTGAGAAGAGGGGGTTCTGTGAGAGGAGGG GGTTCTGTGAGAGGAGGGGGTTCTGTGTGAGAGGAGGGGGTTCTGTGAGA GGAGGGGACTGTGTGAGAGGAGGGGGTTCTCTGAGAGGAGGGGACTGTGT GAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGA	GLIS2	ENSG00000126603.9	transcript	ENST00000433375.2	protein_coding		4791		chr16	TogoVar
GNAQ_chr9_77711097_78036811	77894370	T T	TAATATAT others(175): Show TAATATATATTTAATAGAAAATATATATAATATATATATTTAATAGAAAA AATATATAATATATATATTTAATAGAAAAATATATATATTATATATAATT TAATATTAAAAATATATATAATATATATATTTAATATTAAAATATATATA ATATATATATTTAATAGAAAATATATATTTTAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0083 a0001c0001t0082g0083	1	282	0.0036	182	c.321 others(201): Show c.321+27790_321+27791insATAAAATATATATTTTCTATTAAATA TATATATTATATATATTTTAATATTAAATATATATATTATATATATTTTT AATATTAAATTATATATAATATATATATTTTTCTATTAAATATATATATT ATATATTTTTTCTATTAAATATATATATTATATATATTTTCTATTAAATA TATATT	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GPC6_chr13_93221807_94413020	94288792	A A	AATATATA others(175): Show AATATATATATATTTGTTATATATATAATAAATATATATATATTTGTTAT ATATATAATAAATATATATATATTTGTTATATATATAATAAATATATATA TATTTGTTATATATATAATAAATATATATATATTTGTTATATATATAATA AATATATATATATTTGTTATATATATAATAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02818.hp1 HG02886.hp2 others(4): Show HG01243.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG03453.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 others(2): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0023 a0001c0001t0025	a0001c0001t0007g0020 a0001c0001t0007g0052 a0001c0001t0010g0051 others(4): Show a0001c0001t0007g0020 a0001c0001t0007g0052 a0001c0001t0010g0051 a0001c0001t0013g0030 a0001c0001t0013g0055 a0001c0001t0023g0013 a0001c0001t0025g0066	7	76	0.0921	182	c.100 others(201): Show c.1008+2323_1008+2324insATTTGTTATATATATAATAAATATAT ATATATTTGTTATATATATAATAAATATATATATATTTGTTATATATATA ATAAATATATATATATTTGTTATATATATAATAAATATATATATATTTGT TATATATATAATAAATATATATATATTTGTTATATATATAATAAATATAT ATATAT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPR137B_chr1_236137539_236213907	236186262	T T	TTATATAT others(175): Show TTATATATAATAATATAAATAATATATAATATATATTATATATAATAATA TAAATAATATATAATATATATTATATATAATAATATAAATAATATATAAT ATATATTATATATAATAATATAAATAATATATAATATATATTATATATAA TAATATAAATAATATATAATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01109.hp1 HG02109.hp1 others(6): Show HG00438.hp2 HG01109.hp1 HG02109.hp1 HG02717.hp1 HG03471.hp2 HG03486.hp2 NA18522.hp2 NA18954.hp1 NA18992.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0004c0005t0001	a0001c0001t0001g0035 a0001c0001t0001g0110 a0001c0001t0001g0115 others(6): Show a0001c0001t0001g0035 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0004g0264 a0001c0001t0004g0320 a0001c0001t0004g0321 a0004c0005t0001g0113	9	386	0.0233	182	c.966 others(199): Show c.966+2363_966+2364insAATAATATAAATAATATATAATATATAT TATATATAATAATATAAATAATATATAATATATATTATATATAATAATAT AAATAATATATAATATATATTATATATAATAATATAAATAATATATAATA TATATTATATATAATAATATAAATAATATATAATATATTATATATAATAT ATAT	GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
GPR137B_chr1_236137539_236213907	236186262	T T	TTATATAT others(175): Show TTATATATAATAATATAAATAATATATAATATATATTATATATAATAATA TAAATAATATATAATATATATTATATATAATAATATAAATAATATATAAT ATATATTATATATAATAATATAAATAATATATAATATATTATATATAATA TATATTATATATAATAATATAAATAATATATAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03139.hp2 HG03516.hp1 HG02258.hp2 HG03139.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0227 a0001c0001t0002g0239 a0001c0001t0002g0222 a0001c0001t0002g0227 a0001c0001t0002g0239	3	386	0.0078	182	c.966 others(199): Show c.966+2363_966+2364insAATAATATAAATAATATATAATATATAT TATATATAATAATATAAATAATATATAATATATATTATATATAATAATAT AAATAATATATAATATATATTATATATAATAATATAAATAATATATAATA TATTATATATAATATATATTATATATAATAATATAAATAATATATAATAT ATAT	GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
GPR157_chr1_9095305_9134102	9116284	T T	TATATTAT others(175): Show TATATTATATATATTATATTATATATAATTATATATAATTATATTATATA TTATATGTAATATAAATATATATAATTATATTATATATATTATATGTAAT ATAATTATATATATTTATATTATATATTATATATAATATAATTATATATA TAATTATAATATATATTATATATAATATAATTA	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA18747.hp1 HG03834.hp1 NA18747.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0041 a0001c0001t0001 a0002c0002t0041	a0001c0001t0001g0201 a0002c0002t0041g0141 a0001c0001t0001g0201 a0002c0002t0041g0141	2	404	0.0050	182	c.384 others(199): Show c.384-4796_384-4795insTAATTATATTATATATAATATATATTAT AATTATATATATAATTATATTATATATAATATATAATATAAATATATATA ATTATATTACATATAATATATATAATATAATTATATATATTTATATTACA TATAATATATAATATAATTATATATAATTATATATAATATAATATATATA ATAT	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GRAMD4_chr22_46615386_46684785	46635733	C C	CGTGTCTT others(175): Show CGTGTCTTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCTGTAT CCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCGTGTCTTC CCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACTGTGTCCTCCCTGC CCCCACTCCCAGCCACCCCTGTCCAGGGGAGCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp1 HG02451.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0091 a0001c0002t0004g0096 a0001c0002t0004g0091 a0001c0002t0004g0096	2	328	0.0061	182	c.163 others(199): Show c.163-2102_163-2101insTTCCCTGCCCCGCCCCCGGCCACTCCTG TCCTGGGAGGCTGTATCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCT GGGAGGCCGTGTCTTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGGG ACTGTGTCCTCCCTGCCCCCACTCCCAGCCACCCCTGTCCAGGGGAGCTG TGTC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRHL1_chr2_9946693_10007277	9998889	C C	CACATATA others(175): Show CACATATATATGTACACATATATATACACATATATATGTACACATATATA TATACATATATATGTACACATATATATATACATATATATGTACACATATA TATATACATATATATGTACACATATATGTACACATATATATATACATATA TATACATATATATGTACACATATATATATACAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0002 a0003c0012t0002	a0003c0012t0002g0375 a0003c0012t0002g0375	1	418	0.0024	182	c.167 others(197): Show c.1678-75_1678-74insCATATATATGTACACATATATATACACATA TATATGTACACATATATATATACATATATATGTACACATATATATATACA TATATATGTACACATATATATATACATATATATGTACACATATATGTACA CATATATATATACATATATATACATATATATGTACACATATATATATACA TA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRM5_chr11_88499642_89070982	88687530	A A	ACACACAC others(175): Show ACACACACATATATATTATATATATATTATATATATATATTATATATATA TTATATATATATTATATATATATTATATATATATTATATATATATATTAT ATATATATTATATATATATTATATATATATTATATATATATTATATATAT ATTATATATATAATATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18948.hp2 NA18612.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0129 a0001c0002t0001g0007 a0001c0001t0005g0129 a0001c0002t0001g0007	2	184	0.0109	182	c.912 others(201): Show c.912-34128_912-34127insATATATATATTATATATATATTATAT ATATAATATATATATAATATATATATAATATATATATAATATATATATAA TATATATATAATATATATATATAATATATATATAATATATATATAATATA TATATAATATATATATAATATATATATATAATATATATATAATATATATG TGTGTG	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GRM5_chr11_88499642_89070982	88687530	A A	ACACACAT others(175): Show ACACACATATATATTATATATATATTATATATATATATTATATATATATT ATATATATATTATATATATATATTATATATATATTATATATATATATTAT ATATATATTATATATATATTATATATATATTATATATATATTATATATAT ATTATATATATAATATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19030.hp1 HG03098.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0002 a0001c0001t0001 a0001c0005t0002	a0001c0001t0001g0033 a0001c0005t0002g0012 a0001c0001t0001g0033 a0001c0005t0002g0012	2	184	0.0109	182	c.912 others(201): Show c.912-34128_912-34127insATATATATATTATATATATATTATAT ATATAATATATATATAATATATATATAATATATATATAATATATATATAA TATATATATAATATATATATATAATATATATATAATATATATATATAATA TATATATAATATATATATAATATATATATATAATATATATATAATATATA TGTGTG	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GRM5_chr11_88499642_89070982	88687530	A A	ACACACAT others(175): Show ACACACATATATATTATATATATATTATATATATATATTATATATATATT ATATATATATTATATATATATATTATATATATATTATATATATATTATAT ATATATATTATATATATATTATATATATATTATATATATATTATATATAT ATTATATATATAATATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0017 a0001c0003t0001g0017	1	184	0.0054	182	c.912 others(201): Show c.912-34128_912-34127insATATATATATTATATATATATTATAT ATATAATATATATATAATATATATATAATATATATATAATATATATATAA TATATATATATAATATATATATAATATATATATAATATATATATATAATA TATATATAATATATATATAATATATATATATAATATATATATAATATATA TGTGTG	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GRM7_chr3_6856115_7746533	7276785	T T	TCCTTCCT others(175): Show TCCTTCCTTCCTTCCTCCCTTCCCTTCCCTTCCTCCCTTCCCTTCCCTTC CTTCCTTCCCTTCCTCCCTCCCTCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCCTT CCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0072 a0001c0001t0005g0072	1	80	0.0125	182	c.737 others(201): Show c.737-21884_737-21883insCCCTTCCCTTCCCTTCCTCCCTTCCC TTCCCTTCCTTCCTTCCCTTCCTCCCTCCCTCCTCCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCCTTCCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTCCCTTCCTTC CTTCCT	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRTP1_chr13_113319163_113369130	113346073	G G	GACAAGAG others(175): Show GACAAGAGCAGACCCGGGAGGACCTCTGTGGCTGACAGTGGACCCGGGAG GACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCAAAGAGCA GACCCAGGAGGACCTCTGTGGCCGAGAACAGACCCGGGAGGACCTCTGTG CCTGACAGTGGACCCAGGAGCACCTCTGTGGCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	288	0.0035	182	c.466 others(199): Show c.466-1115_466-1114insTGCCACAGAGGTGCTCCTGGGTCCACTG TCAGGCACAGAGGTCCTCCCGGGTCTGTTCTCGGCCACAGAGGTCCTCCT GGGTCTGCTCTTTGCCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAG AGGTCCTCCCGGGTCCACTGTCAGCCACAGAGGTCCTCCCGGGTCTGCTC TTGT	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346073	G G	GACAAGAG others(175): Show GACAAGAGCAGACCCGGGAGGACCTCTGTGGCTGACAGTGGACCCGGGAG GACCTCTGTGGCCGAGAACAGACCCGGGAGGACCTCTGTGCCTGACAGTG GACCCAGGAGCACCTCTGTGGCCGAGAACAGACCCGGGAGGACCTCTGTG CCTGACAGTGGACCCAGGAGCACCTCTGTGGCA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	288	0.0035	182	c.466 others(199): Show c.466-1115_466-1114insTGCCACAGAGGTGCTCCTGGGTCCACTG TCAGGCACAGAGGTCCTCCCGGGTCTGTTCTCGGCCACAGAGGTGCTCCT GGGTCCACTGTCAGGCACAGAGGTCCTCCCGGGTCTGTTCTCGGCCACAG AGGTCCTCCCGGGTCCACTGTCAGCCACAGAGGTCCTCCCGGGTCTGCTC TTGT	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346401	T T	TGAGAACA others(175): Show TGAGAACAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGA CCTCTGTGGCTGACAGTGGACCCGGGAGGACCTCTGTGCCTGACAGTGGA CCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGC TGAGAACAGACCCAGGAGGACCTCTGTGGCCGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01978.hp1 HG01358.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0120 a0001c0001t0001g0123	2	288	0.0069	182	c.466 others(199): Show c.466-1443_466-1442insTCGGCCACAGAGGTCCTCCTGGGTCTGT TCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGGCACAGAGGTCCTC CCGGGTCCACTGTCAGGCACAGAGGTCCTCCCGGGTCCACTGTCAGCCAC AGAGGTCCTCCCGGGTCTGCTCTTGTCCACAGAGGTCCTCCCGGGTCTGT TCTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GSE1_chr16_85608322_85681200	85653201	C C	CCCCTCCT others(175): Show CCCCTCCTCCTCCCCCCTCCTCCCCCCCCCTCCTCCCCCCTCTCCCCCTC CCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	290	0.0035	182	c.427 others(199): Show c.427-1075_427-1074insCTCCTCCTCCCCCCTCCTCCCCCCCCCT CCTCCCCCCTCTCCCCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCC CTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GTF2IRD1_chr7_74448906_74607605	74556790	A A	ATTTTTTT others(175): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGAAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00642.hp2 others(25): Show HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01346.hp2 HG01928.hp2 HG01981.hp2 HG02055.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02615.hp1 HG02698.hp2 HG02886.hp2 HG02897.hp1 HG03490.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG04115.hp1 HG04204.hp2 NA19007.hp2 NA19043.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0004 others(3): Show a0002c0002 a0002c0003 a0002c0004 a0002c0006 a0002c0008 a0002c0009	a0002c0002t0001 a0002c0003t0001 a0002c0003t0002 others(9): Show a0002c0002t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0011 a0002c0004t0003 a0002c0006t0001 a0002c0008t0001 a0002c0008t0008 a0002c0009t0001 a0002c0009t0003	a0002c0002t0001g0143 a0002c0003t0001g0027 a0002c0003t0001g0046 others(25): Show a0002c0002t0001g0143 a0002c0003t0001g0027 a0002c0003t0001g0046 a0002c0003t0001g0069 a0002c0003t0001g0155 a0002c0003t0001g0187 a0002c0003t0001g0189 a0002c0003t0001g0223 a0002c0003t0001g0226 a0002c0003t0001g0230 a0002c0003t0001g0235 a0002c0003t0001g0248 a0002c0003t0001g0250 a0002c0003t0002g0132 a0002c0003t0002g0165 a0002c0003t0002g0238 a0002c0003t0002g0246 a0002c0003t0003g0073 a0002c0003t0003g0188 a0002c0003t0004g0214 a0002c0003t0011g0256 a0002c0004t0003g0030 a0002c0006t0001g0172 a0002c0008t0001g0253 a0002c0008t0001g0254 a0002c0008t0008g0207 a0002c0009t0001g0247 a0002c0009t0003g0031	28	262	0.1069	182	c.202 others(199): Show c.2024-844_2024-843insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGAAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTT	GTF2IRD1	ENSG00000006704.11	transcript	ENST00000424337.7	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
GUCY1A2_chr11_106669019_107023476	106709652	G G	GTTATATA others(175): Show GTTATATATTATATACACGTATAGAATATATAGTTAGTTATATACACGTA TAGAATATATAGTTATATACACGTATAGAATATATAGTTATATATTATAT ACACGTATAGAATATATAGTTATATATTATATACACGTATAGAATATATA GTTATATACACGTATAGAATATATAGTTATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0015 a0001c0005t0015	a0001c0005t0015g0044 a0001c0005t0015g0044	1	256	0.0039	182	c.183 others(199): Show c.1837-987_1837-986insTATATAACTATATATTCTATACGTGTAT ATAACTATATATTCTATACGTGTATATAATATATAACTATATATTCTATA CGTGTATATAATATATAACTATATATTCTATACGTGTATATAACTATATA TTCTATACGTGTATATAACTAACTATATATTCTATACGTGTATATAATAT ATAA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HAVCR1_chr5_157024413_157064116	157044603	G G	GAAAGAGA others(175): Show GAAAGAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAGGAAGGAAGGAAAGAAAGAAAGGAAAGAAGAAAGGAGGAAGGA AGGAAGGAGAGAGAAAGAAAGACAAAGAAAGAAGGAAAGAAAGAAAGAAA GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02896.hp2 HG02615.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0196 a0002c0002t0001g0199 a0002c0002t0001g0196 a0002c0002t0001g0199	2	352	0.0057	182	c.782 others(199): Show c.782-1922_782-1921insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTCTTTCTTTCTTTCTTTCCTTCTTTCTTTGTCTTTCTTTCTCTCTCC TTCCTTCCTTCCTCCTTTCTTCTTTCCTTTCTTTCTTTCCTTCCTTCCTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCT CTTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HSF1_chr8_144286604_144319720	144313660	G G	GCGCCTCC others(175): Show GCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCACCGCCTCCCCGCCTCC CCGCACCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCCCCG CCTCCCCGCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCAC CGCCTCCCCGCACCGCCTCCCCGCGCCGCCTCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	330	0.0030	182	c.124 others(197): Show c.1248+45_1248+46insGCCTCCCCGCCTCCCCGCACCGCCTCCCCG CACCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCACCGCCT CCCCGCCTCCCCGCCCCGCCTCCCCGCGCCTCCCCGCCTCCCCGCCCCGC CTCCCCGCCTCCCCGCACCGCCTCCCCGCACCGCCTCCCCGCGCCGCCTC CC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
IFT140_chr16_1505427_1617072	1599649	T T	TGGGGGGG others(175): Show TGGGGGGGTCGGCCCCCCGCCGGGCCAGCCACCCCGTCCGGGAGGGAGGT GGGGGGGTCGGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCGGCCCCCCGCCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0125 a0001c0010t0001g0125	1	334	0.0030	182	c.369 others(199): Show c.369+2720_369+2721insCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGGCGGGGGGCCGACC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCCGACC CCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCCGACCC CCCC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IGF2_chr11_2124117_2144389	2125053	A A	AGATAGAT others(175): Show AGATAGATGACTGGGTGGGTGGATGGAGGGTGAGTGGATGGATGGATGAG TGGGTGAGTGGGTAAGTGGGTGAATGGGTAGACGGATAGATGGATAGATG ACTGGGTGGGTGGATGGAGGGTGAGTGGATGGATGGATGAGTGGGTGAGT GGGTAAGTGGGTGAATGGGTAGACGGATAGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0166 a0001c0001t0166	a0001c0001t0166g0228 a0001c0001t0166g0228	1	388	0.0026	182	c.79 others(193): Show c.7933_*7934insCATCTATCCGTCTACCCATTCACCCACTTACCCA CTCACCCACTCATCCATCCATCCACTCACCCTCCATCCACCCACCCAGTC ATCTATCCATCTATCCGTCTACCCATTCACCCACTTACCCACTCACCCAC TCATCCATCCATCCACTCACCCTCCATCCACCCACCCAGTCATCTATC	IGF2	ENSG00000167244.22	transcript	ENST00000416167.7	protein_coding		4063		chr11	TogoVar
IL11_chr19_55359382_55375463	55360293	C C	CAGGAGTC others(175): Show CAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGC CCCAGCTCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCAGCTCCTCCTC CCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACTGAGG AGTCCAGGCCCCAGTCTCTCCTCCCTCAGACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	352	0.0028	182	c.57 others(193): Show c.5713_*5714insCAGTCTGAGGGAGGAGAGACTGGGGCCTGGACTC CTCAGTCTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGG AGGAGGAGCTGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGAGCTGGGG CCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCT	IL11	ENSG00000095752.7	transcript	ENST00000264563.7	protein_coding		4088		chr19	TogoVar
IL19_chr1_206765773_206847981	206781841	G G	GGTTATAT others(175): Show GGTTATATATACATATATATGTATATAGTTATATATACATATATATGTAT ATAGTTATATATACATATATATGTATATAGTTATATATACATATATATGT ATATAGTTATATATACATATATATGTATATAGTTATATATACATATATAT GTATATAGTTATATATACATATATATGTATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0099 a0001c0001t0006g0099	1	366	0.0027	182	c.-14 others(203): Show c.-149+10892_-149+10893insAGTTATATATACATATATATGTAT ATAGTTATATATACATATATATGTATATAGTTATATATACATATATATGT ATATAGTTATATATACATATATATGTATATAGTTATATATACATATATAT GTATATAGTTATATATACATATATATGTATATAGTTATATATACATATAT ATGTATAT	IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL3RA_chrX_1331785_1387689	1360948	T T	TCTCTGTC others(175): Show TCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTC TGTCTCTCTCTCCCTTCCCCTCTCTCTCTCTCCCTTCCCCTCTCTGTCTC TCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTC TCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03471.hp2 NA18906.hp2 HG02922.hp1 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0105 a0001c0001t0003g0114 a0001c0001t0013g0091 a0001c0001t0003g0105 a0001c0001t0003g0114 a0001c0001t0013g0091	3	115	0.0261	182	c.759 others(199): Show c.759+2063_759+2064insCTGTCTCTCTCTCCCTTCCCCTCTGTCT CTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTCTCTCT CCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCT TCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTC CCCT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar

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