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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DPEP1_chr16_89608642_89643433	89635035	C C	CTCCTTTC others(174): Show CTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCCTCCTTCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	250	0.0040	181	c.105 others(196): Show c.105-873_105-872insTCCTTTCCCTTCCTTCTCCTTTCCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTCCTTC T		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10						chr16	TogoVar
DYM_chr18_49031387_49465645	49440818	T T	TTATATAA others(174): Show TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATTTATATAAATACATTATATTTTATATA TTTATATAAATACATTATATTTTATATATTTATATAAATATATTATATTT TATATAATATATTATATATAATATATATAATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0225 a0001c0001t0021g0225	1	290	0.0035	181	c.-53 others(200): Show c.-53-10372_-53-10371insTATTATATATATTATATATAATATAT TATATAAAATATAATATATTTATATAAATATATAAAATATAATGTATTTA TATAAATATATAAAATATAATGTATTTATATAAATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATA		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17						chr18	TogoVar
DYSF_chr2_71448561_71691763	71479156	T T	TAAGAGCC others(174): Show TAAGAGCCAACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTATCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp2 HG02818.hp2 HG02280.hp1 HG02809.hp2 HG02818.hp2	a0001 a0016 a0001 a0016	a0001c0006 a0001c0018 a0016c0058 a0001c0006 a0001c0018 a0016c0058	a0001c0006t0003 a0001c0018t0001 a0016c0058t0001 a0001c0006t0003 a0001c0018t0001 a0016c0058t0001	a0001c0006t0003g0007 a0001c0018t0001g0004 a0016c0058t0001g0008 a0001c0006t0003g0007 a0001c0018t0001g0004 a0016c0058t0001g0008	3	192	0.0156	181	c.89- others(196): Show c.89-1720_89-1719insAACCCAAATACGTGGTAGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTATCAAAAAAAAAAAAAAAAAAAAAAAAAAGAGC C		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(174): Show TAAGAGCCAACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTATCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02280.hp2 HG02809.hp1 others(1): Show HG01167.hp1 HG02280.hp2 HG02809.hp1 HG02818.hp2	a0001 a0017 a0001 a0017	a0001c0006 a0001c0009 a0001c0060 others(1): Show a0001c0006 a0001c0009 a0001c0060 a0017c0058	a0001c0006t0003 a0001c0009t0008 a0001c0060t0001 others(1): Show a0001c0006t0003 a0001c0009t0008 a0001c0060t0001 a0017c0058t0001	a0001c0006t0003g0204 a0001c0009t0008g0196 a0001c0060t0001g0197 others(1): Show a0001c0006t0003g0204 a0001c0009t0008g0196 a0001c0060t0001g0197 a0017c0058t0001g0205	4	208	0.0192	181	c.92- others(196): Show c.92-1720_92-1719insAACCCAAATACGTGGTAGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTATCAAAAAAAAAAAAAAAAAAAAAAAAAAGAGC C		DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	1/55					INFO_REALIGN_3_PRIME	chr2	TogoVar
ELMO1_chr7_36847906_37453864	37293055	C C	CCCCCCCG others(174): Show CCCCCCCGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCCGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGCGGGGTCAGT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	92	0.0109	181	c.193 others(200): Show c.193-21174_193-21173insACTGACCCCGCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCGGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCTCCCAGACGGGGTGGCTGGCCGGGCG GGGGG		ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	4/21						chr7	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(174): Show GATATAACATATGCTATATATCATATATATCATATATAACATATGTTATA TATGATATATATGATATATAGCATATGTTATATATTATATATAACATATA TGATATATAACATATGTTATATATGATATATAACATATGTTATATATCAT ATATGTTATATATCATATATGTTATATATCAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18982.hp1 HG00438.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0060 a0001c0001t0005 a0001c0001t0060	a0001c0001t0005g0225 a0001c0001t0060g0311 a0001c0001t0005g0225 a0001c0001t0060g0311	2	338	0.0059	181	c.221 others(200): Show c.221+21529_221+21530insATGATATATAACATATATGATATATA ACATATATGATATATAACATATGTTATATATCATATATAACATATGTTAT ATATCATATATGTTATATATAATATATAACATATGCTATATATCATATAT ATCATATATAACATATGTTATATATGATATATATGATATATAGCATATGT TATAT		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3						chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(174): Show GATATAACATATGCTATATATCATATATATCATATATAACATGTTATATA TGATATATATGATATATAGCATATGTTATATATTATATATAACATATATA TGATATATAACATATGTTATATATGATATATAACATATGTTATATATCAT ATATGTTATATATCATATATGTTATATATCAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0337	1	338	0.0030	181	c.221 others(200): Show c.221+21529_221+21530insATGATATATAACATATATGATATATA ACATATATGATATATAACATATGTTATATATCATATATAACATATGTTAT ATATCATATATATGTTATATATAATATATAACATATGCTATATATCATAT ATATCATATATAACATGTTATATATGATATATATGATATATAGCATATGT TATAT		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3						chr4	TogoVar
EPHX2_chr8_27486143_27550564	27501387	C C	CTTCTTCT others(174): Show CTTCTTCTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTT CCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTC CTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCC TTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	374	0.0027	181	c.186 others(196): Show c.186+384_186+385insCCTTCTTCCTTCTTCCTTCTTCCTTCTTCC TTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCT TCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTT CTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTCCTTCTTTCTTC T		EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH1_chr8_659200_736224	688310	C C	CCCGGCCC others(174): Show CCCGGCCCCTCCGCCGCCCCGCCCCGGCCCCTCCGCCGCCCCGCCCCGGC CCCTCCCCCGCCCCGCCCCGGCCCCTCCGCCGCCCCGCCCCGGCCCCTCC GCCGCCCCGCCCCGGCCCCTCCGCCGCCCCGCCCCGGCCCCTCCCCCGCC CCGCCCCGGCCCCTCCGCCGCCCCGCCCCGCT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0243 a0001c0002t0005g0243	1	378	0.0027	181	c.304 others(198): Show c.304+4167_304+4168insAGCGGGGCGGGGCGGCGGAGGGGCCGGG GCGGGGCGGGGGAGGGGCCGGGGCGGGGCGGCGGAGGGGCCGGGGCGGGG CGGCGGAGGGGCCGGGGCGGGGCGGCGGAGGGGCCGGGGCGGGGCGGGGG AGGGGCCGGGGCGGGGCGGCGGAGGGGCCGGGGCGGGGCGGCGGAGGGGC CGG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	688310	C C	CCCGGCCC others(174): Show CCCGGCCCTTCCGCCGCCCCGCCCCGGCCCCTCCGCCGCCCCGCCCCGGC CCCTCCGCCGCCCCGCCCCGGCCCCTCCCCCGCCCCGCCCCGGCCCCTCC CCCGCCCCGCCCCGGCCCCTCCGCCGCCCCGCCCCGGCCCCTCCGCCGCC CCGCCCCGGCCCCTCCGCCGCCCCGCCCCGCT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	378	0.0027	181	c.304 others(198): Show c.304+4167_304+4168insAGCGGGGCGGGGCGGCGGAGGGGCCGGG GCGGGGCGGCGGAGGGGCCGGGGCGGGGCGGCGGAGGGGCCGGGGCGGGG CGGGGGAGGGGCCGGGGCGGGGCGGGGGAGGGGCCGGGGCGGGGCGGCGG AGGGGCCGGGGCGGGGCGGCGGAGGGGCCGGGGCGGGGCGGCGGAAGGGC CGG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	688310	C C	CCCGGCCC others(174): Show CCCGGCCCTTCCGCCGCCCCGCCCCGGCCCTTCCGCCGCCCCGCCCCGGC CCTTCCGCCGCCCCGCCCCGGCCCCTCCGCCGCCCCGCCCCGGCCCCTCC CCCGCCCCGCCCCGGCCCCTCCCCCGCCCCGCCCCGGCCCCTCCGCCGCC CCGCCCCGGCCCCTCCGCCGCCCCGCCCCGCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0078 a0003c0004t0001g0078	1	378	0.0027	181	c.304 others(198): Show c.304+4167_304+4168insAGCGGGGCGGGGCGGCGGAGGGGCCGGG GCGGGGCGGCGGAGGGGCCGGGGCGGGGCGGGGGAGGGGCCGGGGCGGGG CGGGGGAGGGGCCGGGGCGGGGCGGCGGAGGGGCCGGGGCGGGGCGGCGG AAGGGCCGGGGCGGGGCGGCGGAAGGGCCGGGGCGGGGCGGCGGAAGGGC CGG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ESRRB_chr14_76371137_76506837	76407452	G G	GCTAAATC others(174): Show GCTAAATCCTCTGACCTTGACTTTGGTTTAGGGACCAGAGTCTGGTATCT AAGTGCGATCTTACTCTAGCTTTCCCATCTGTTCTGTTTAGGCCAGAGGT GATCCAGTGATTTGGGAGCTGCAGGTCACACAGGCTGCTCAGAGGGTAAG TTGGGTCCAGTCGGGCCAGCAGAGCCACCAGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03654.hp1 NA20805.hp2 HG00099.hp2 HG03654.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0254 a0001c0001t0001g0283 a0001c0001t0030g0284 a0001c0001t0001g0254 a0001c0001t0001g0283 a0001c0001t0030g0284	3	318	0.0094	181	c.50+ others(198): Show c.50+31172_50+31173insAGCCACCAGTCTAAATCCTCTGACCTTG ACTTTGGTTTAGGGACCAGAGTCTGGTATCTAAGTGCGATCTTACTCTAG CTTTCCCATCTGTTCTGTTTAGGCCAGAGGTGATCCAGTGATTTGGGAGC TGCAGGTCACACAGGCTGCTCAGAGGGTAAGTTGGGTCCAGTCGGGCCAG CAG		ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr14	TogoVar
EXD3_chr9_137301896_137428162	137323139	A A	ATCTGCCG others(174): Show ATCTGCCGACACCCCACCCCGGACCCACGAGGGGTGATCTGCCGACACCC CACCCCGGACCCACGAGGGGTGATCTGCCGACACCCCACCCCGGGACCCA CGAGGGGTGATCTGCCGACACCCCACCCCGGACCCACGAGGGGTGATCTG CCGACACCCCACCCCGGACCCACGAGGGGTGC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0039 a0009c0013t0001g0039	1	82	0.0122	181	c.218 others(198): Show c.2184+585_2184+586insGCACCCCTCGTGGGTCCGGGGTGGGGTG TCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCC CTCGTGGGTCCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGG GGTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGC AGA		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21						chr9	TogoVar
EXOC2_chr6_480154_698139	501612	A A	ATATTATA others(174): Show ATATTATATATATCTATATATTATATATATATTATATATATTATATATAT ATTATATATATCTATATATATTATATATATTATATATATCTATATATATT ATATATATTATATATATCTATATATATTATATATAATATATAGATATATA TTATATATCTATATATAATATCTATATTATAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	272	0.0037	181	c.238 others(200): Show c.2381-1913_2381-1912insATATAATATAGATATTATATATAGAT ATATAATATATATCTATATATTATATATAATATATATAGATATATATAAT ATATATAATATATATAGATATATATAATATATATAATATATATAGATATA TATAATATATATATAATATATATAATATATATATAATATATAGATATATA TAATA		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27						chr6	TogoVar
EXOC4_chr7_133248078_134070761	133896831	A A	ATTTTTGT others(174): Show ATTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTATGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03041.hp2 HG02572.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0018 a0001c0003t0004 a0001c0003t0018	a0001c0003t0004g0097 a0001c0003t0018g0058 a0001c0003t0004g0097 a0001c0003t0018g0058	2	102	0.0196	181	c.187 others(200): Show c.1871+1103_1871+1104insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTT TTTGT		EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
FAM174C_chr19_1270530_1284228	1282509	A A	AAGAGGGA others(174): Show AAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGGAGGAGGGTGTG AAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGGGAGGAGGGAGG GAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGGAGGAA GGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	254	0.0039	181	c.37 others(192): Show c.3732_*3733insAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGG AGGGAGGAGGGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGG AGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGG GTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGG		FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding					3282		chr19	TogoVar
FAM210A_chr18_13658347_13731558	13674762	A A	ACTTCATT others(174): Show ACTTCATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCTGGCTTCTT TATTTCCTGTTTCCTCATTATTAACATTCCTGAGCCCCGACTTCATTATT TCCAGTTTCCTGATTATTAACATTCCTGAGCCCCGACTTCATTTCCAGTT TCCTGATTATTAACATTCCTGAGCCCTGGCCT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01175.hp2 HG01261.hp1 others(13): Show HG01168.hp1 HG01175.hp2 HG01261.hp1 HG01361.hp2 HG01516.hp1 HG01978.hp2 HG02055.hp1 HG02109.hp1 HG02970.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03669.hp2 HG03710.hp2 HG03927.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0033 a0001c0001t0001 a0001c0001t0005 a0001c0001t0033	a0001c0001t0001g0027 a0001c0001t0001g0046 a0001c0001t0001g0047 others(12): Show a0001c0001t0001g0027 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0286 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0278 a0001c0001t0033g0275	16	326	0.0491	181	c.474 others(198): Show c.474-2790_474-2789insAGGCCAGGGCTCAGGAATGTTAATAATC AGGAAACTGGAAATGAAGTCGGGGCTCAGGAATGTTAATAATCAGGAAAC TGGAAATAATGAAGTCGGGGCTCAGGAATGTTAATAATGAGGAAACAGGA AATAAAGAAGCCAGGGCTCAGGAATGTTAATAATCAGGAAACTGGAAATG AAG		FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3						chr18	TogoVar
FAM83F_chr22_39989954_40048534	40047439	T T	TAAAAATA others(174): Show TAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG03195.hp2 HG02572.hp2 HG03195.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0013 a0001c0001 a0009c0013	a0001c0001t0085 a0009c0013t0045 a0001c0001t0085 a0009c0013t0045	a0001c0001t0085g0068 a0009c0013t0045g0132 a0001c0001t0085g0068 a0009c0013t0045g0132	2	234	0.0086	181	c.17 others(194): Show c.17874_*17875insAAAAATACAAAAAAATTAGCCGGGCGTGGTGG CGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA		FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding					3906		chr22	TogoVar
FHAD1_chr1_15242223_15403328	15388335	C C	CCCCTCCC others(174): Show CCCCTCCCCAGCCCCTGCCCCACCTCCCTCCCTCCCTCCCTCCTTCCCTT CCCTCCCCAGTCCCTGTCCAAACCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTTCCCTCCCCAGTCCCTGCCCCACCTCCCTCCCTCCCTTCCCTC CCCAGGCCCTGCCCCACCTCCCTCCCTCCATT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0019 a0019	a0019c0022 a0019c0022	a0019c0022t0004 a0019c0022t0004	a0019c0022t0004g0071 a0019c0022t0004g0071	1	294	0.0034	181	c.426 others(198): Show c.4269+214_4269+215insCCCCTGCCCCACCTCCCTCCCTCCCTCC CTCCTTCCCTTCCCTCCCCAGTCCCTGTCCAAACCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCCTCCCCAGTCCCTGCCCCACCTCCCTCCC TCCCTTCCCTCCCCAGGCCCTGCCCCACCTCCCTCCCTCCATTCCCTCCC CAG		FHAD1	ENSG00000142621.21	transcript	ENST00000688493.1	protein_coding	32/33					INFO_REALIGN_3_PRIME	chr1	TogoVar
FOXP1_chr3_70949708_71588728	71435561	A A	AGGGAGGA others(174): Show AGGGAGGAAAAAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGG GACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGA GGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACG GAGGGAGGGAGGGAGGAAAAAAGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0084 a0001c0001t0052g0084	1	96	0.0104	181	c.-16 others(202): Show c.-168+57864_-168+57865insCCCTCCCTCCTTTTTTCCTCCCTC CCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCG TCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTC CCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTTTT TCCTCCC		FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20						chr3	TogoVar
GALNT9_chr12_132191372_132334589	132240897	A A	ACCCCCTT others(174): Show ACCCCCTTCCCGGGGCCGTCCCTATACCCATTACACACACACCACGCCCC CTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCC CAGGGCCCTCCCTATCCCCTTTACACACACGCCACACCCCCTTCCCGGGG CCCTCCCTATACCCATTTGCACACACGCCATG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03139.hp2 HG02683.hp2 HG03139.hp2	a0001 a0004 a0001 a0004	a0001c0005 a0004c0023 a0001c0005 a0004c0023	a0001c0005t0001 a0004c0023t0005 a0001c0005t0001 a0004c0023t0005	a0001c0005t0001g0008 a0004c0023t0005g0028 a0001c0005t0001g0008 a0004c0023t0005g0028	2	183	0.0109	181	c.107 others(200): Show c.1077+7012_1077+7013insCATGGCGTGTGTGCAAATGGGTATAG GGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAAAGGGGATAGGGAGG GCCCTGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCC GGGAAGGGGGCGTGGTGTGTGTGTAATGGGTATAGGGACGGCCCCGGGAA GGGGG		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GRAMD1B_chr11_123425269_123632767	123457117	A A	AGAAAGAA others(174): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18950.hp2 NA20805.hp1 HG02056.hp2 NA18950.hp2 NA20805.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0004 a0006c0010 a0001c0001 a0001c0004 a0006c0010	a0001c0001t0019 a0001c0004t0005 a0006c0010t0024 a0001c0001t0019 a0001c0004t0005 a0006c0010t0024	a0001c0001t0019g0141 a0001c0004t0005g0012 a0006c0010t0024g0060 a0001c0001t0019g0141 a0001c0004t0005g0012 a0006c0010t0024g0060	3	282	0.0106	181	c.375 others(200): Show c.375-23699_375-23698insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAG		GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19						chr11	TogoVar
GRTP1_chr13_113319163_113369130	113332381	C C	CGTGCACA others(174): Show CGTGCACACGCACGCCACACAGGTACACACGTGCACACGCACGCCACACG TGCACACGCACGCCACACACAGGTACACACGTGCACACGCACGCCACACA CAGGTACACACGTGCACACACACACCACACACGTGCACACGCACGCCACA CAGGTACACACGTGCACACGCACGCCACACGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0282 a0002c0002t0002g0282	1	288	0.0035	181	c.563 others(198): Show c.563-6291_563-6290insACGTGTGGCGTGCGTGTGCACGTGTGTA CCTGTGTGGCGTGCGTGTGCACGTGTGTGGTGTGTGTGTGCACGTGTGTA CCTGTGTGTGGCGTGCGTGTGCACGTGTGTACCTGTGTGTGGCGTGCGTG TGCACGTGTGGCGTGCGTGTGCACGTGTGTACCTGTGTGGCGTGCGTGTG CAC		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	5/7						chr13	TogoVar
GSTA4_chr6_52972953_53000284	52995787	G G	GAGGACCG others(174): Show GAGGACCGGTCTTCGGTCAAGGGTATACGAGTAGCTGCGCTCCCCTGCTA GAACCTCCAAACAAGCTCTCAAGGTCCATTTGTAGGAGAACGTAGGGTAG TCAAGCTTCCAAGACTCCAGACACATCCAAATGAGGCGCTGCATGTGGCA GTCTGCCTTTCTTTTGACCCATTACCCATCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0035 a0001c0002t0007g0035	1	324	0.0031	181	c.-55 others(190): Show c.-558_-557insTAGATGGGTAATGGGTCAAAAGAAAGGCAGACTGCC ACATGCAGCGCCTCATTTGGATGTGTCTGGAGTCTTGGAAGCTTGACTAC CCTACGTTCTCCTACAAATGGACCTTGAGAGCTTGTTTGGAGGTTCTAGC AGGGGAGCGCAGCTACTCGTATACCCTTGACCGAAGACCGGTCCT		GSTA4	ENSG00000170899.11	transcript	ENST00000370963.9	protein_coding					504		chr6	TogoVar
GTF2IRD1_chr7_74448906_74607605	74556790	A A	ATTTTTTT others(174): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGAAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02683.hp1 NA18966.hp2 others(1): Show HG02132.hp1 HG02683.hp1 NA18966.hp2 NA19065.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0005c0021 a0002c0003 a0005c0021	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(1): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0005c0021t0002	a0002c0003t0001g0012 a0002c0003t0002g0029 a0002c0003t0003g0042 others(1): Show a0002c0003t0001g0012 a0002c0003t0002g0029 a0002c0003t0003g0042 a0005c0021t0002g0220	4	262	0.0153	181	c.202 others(198): Show c.2024-844_2024-843insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGAAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTT		GTF2IRD1	ENSG00000006704.11	transcript	ENST00000424337.7	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr7	TogoVar
GTF2IRD1_chr7_74448906_74607605	74556790	A A	ATTTTTTT others(174): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGAAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCGGCCACTACGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0234 a0002c0003t0003g0234	1	262	0.0038	181	c.202 others(198): Show c.2024-844_2024-843insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGAAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCGGCCACTACGCCCGGCTAATTT TTT		GTF2IRD1	ENSG00000006704.11	transcript	ENST00000424337.7	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr7	TogoVar
HBQ1_chr16_175459_186179	186118	G G	GGGGAACA others(174): Show GGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGAGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGAGGA ACAGCGACACGGGGGAGGAACAGCGACACGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	384	0.0052	181	c.50 others(192): Show c.5010_*5011insGGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGA CACGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACA GCGACACGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGA		HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding					4940		chr16	TogoVar
HERC6_chr4_88373852_88448097	88379742	A A	ATATATAA others(174): Show ATATATAAATATATATAATATATAAATATATAATATATAAATATATATAA TATATAAATATATAATATATAAATATATATAATATATAAATATATAATAT ATAAATATATATAATATATAAATATATAAATATATAACATATAAATATAT ATAATATATAAATATATATATAACATATAAAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	174	0.0058	181	c.199 others(196): Show c.199+622_199+623insTATATAAATATATATAATATATAAATATAT AATATATAAATATATATAATATATAAATATATAATATATAAATATATATA ATATATAAATATATAATATATAAATATATATAATATATAAATATATAAAT ATATAACATATAAATATATATAATATATAAATATATATATAACATATAAA T		HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22						chr4	TogoVar
IL19_chr1_206765773_206847981	206781970	T T	TAGTTATA others(174): Show TAGTTATATATACATATATATGTATATAGTTATATATACATATATATGTA TATAGTTATATATACATATATATGTATATAGTTATATATACATATATATG TATATAGTTATATATACATATATATGTATATGTTATATATACATATATAT GTATATGTTATATATACATATATATGTATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18522.hp1 NA19030.hp2 HG01109.hp2 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0118 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0118 a0001c0001t0006g0152 a0001c0001t0006g0153	3	366	0.0082	181	c.-14 others(202): Show c.-149+10892_-149+10893insAGTTATATATACATATATATGTAT ATAGTTATATATACATATATATGTATATAGTTATATATACATATATATGT ATATAGTTATATATACATATATATGTATATAGTTATATATACATATATAT GTATATGTTATATATACATATATATGTATATGTTATATATACATATATAT GTATATA		IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	1/6						chr1	TogoVar
IL1RAPL1_chrX_28582446_29961718	29507379	C C	CCCCTTCT others(174): Show CCCCTTCTCTCCCCTCCCTTCCCTCCCCTTCTCTGCCCTCCCCTCCCCTC CCTTCCCCTCCCCTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCCTCCCA TCCCCTCCCCTTCCCTCCCCCTCCCCTCCCCTCCCCTTCCCCCTCCCGTC CCCCTCCCCTTCCCTTCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	135	0.0074	181	c.703 others(202): Show c.703+108077_703+108078insTCTCCCCTCCCTTCCCTCCCCTTC TCTGCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCCTC CCCTCCCCTTCCCCTCCCATCCCCTCCCCTTCCCTCCCCCTCCCCTCCCC TCCCCTTCCCCCTCCCGTCCCCCTCCCCTTCCCTTCCCCTCCCCTCCCCT TCCCTTC		IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5A_chr10_132532787_132788480	132572939	C C	CTGAGGTT others(174): Show CTGAGGTTTTGTTGAGATGTTGGGGTGTACGTGCCGTGTGAGGTTTTGTT GAGATGTTGGGGTGTGCGTGCCGTGTGAGGTTTTGTTGCGATGTTGGGGT GTACGTGCCGTGAGGTTTTGTTGAGATGTTGGGGTGTGTGTGCTGTGTGA GGTTTTGTTGATGTTGAGGTGTGTGTGCCGTG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	204	0.0049	181	c.76- others(198): Show c.76-34865_76-34864insAGGTTTTGTTGAGATGTTGGGGTGTGTG TGCTGTGTGAGGTTTTGTTGATGTTGAGGTGTGTGTGCCGTGTGAGGTTT TGTTGAGATGTTGGGGTGTACGTGCCGTGTGAGGTTTTGTTGAGATGTTG GGGTGTGCGTGCCGTGTGAGGTTTTGTTGCGATGTTGGGGTGTACGTGCC GTG		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
IPO11_chr5_62407763_62633582	62598432	C C	CTTTCTTC others(174): Show CTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	330	0.0030	181	c.267 others(200): Show c.2679-3331_2679-3330insTTCTTCTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTT		IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29					INFO_REALIGN_3_PRIME	chr5	TogoVar
ITPR2_chr12_26330352_26838194	26784357	C C	CTCCTCTC others(174): Show CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCG CTCTCGCTCTCGCTCTCGCTCTCCTTCCGCGG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0001 a0001c0056t0001	a0001c0056t0001g0017 a0001c0056t0001g0017	1	142	0.0070	181	c.163 others(198): Show c.163+5799_163+5800insCCGCGGAAGGAGAGCGAGAGCGAGAGCG AGAGCGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGA		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56						chr12	TogoVar
IVD_chr15_40400795_40426308	40422766	A A	ATTTTTGT others(174): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01106.hp1 HG01192.hp1 others(14): Show HG00735.hp1 HG01106.hp1 HG01192.hp1 HG01361.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02015.hp1 HG02273.hp1 HG02451.hp1 HG02486.hp2 HG02896.hp2 HG03491.hp1 NA18943.hp2 NA18977.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0001 a0001c0001t0006 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0006g0008 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0006g0008 a0001c0001t0006g0040 a0001c0001t0006g0112 a0001c0001t0011g0038 a0001c0001t0011g0107	17	378	0.0450	181	c.45 others(192): Show c.4503_*4504insTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT		IVD	ENSG00000128928.10	transcript	ENST00000487418.8	protein_coding					1459		chr15	TogoVar
IZUMO3_chr9_24537952_24550897	24546511	T T	TCTTTTCT others(174): Show TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG06807.hp2 HG03490.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	2	426	0.0047	181	c.-86 others(190): Show c.-863_-862insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG		IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding					615		chr9	TogoVar
JAKMIP3_chr10_132060946_132189858	132097968	T T	TTTCCCTT others(174): Show TTTCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTT TCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTCC CCTTCCCCTTTCCTTCCCCTTTCCCTTTCCTTCCCCTTTCCCTTCCCCTT TCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02523.hp2 HG03017.hp2 others(6): Show HG02129.hp2 HG02523.hp2 HG03017.hp2 NA18960.hp1 NA18966.hp2 NA18983.hp1 NA18999.hp2 NA19004.hp2 NA19091.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0002 a0003c0018 others(1): Show a0001c0001 a0003c0002 a0003c0018 a0004c0007	a0001c0001t0001 a0003c0002t0001 a0003c0018t0002 others(1): Show a0001c0001t0001 a0003c0002t0001 a0003c0018t0002 a0004c0007t0001	a0001c0001t0001g0116 a0003c0002t0001g0109 a0003c0002t0001g0110 others(6): Show a0001c0001t0001g0116 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0112 a0003c0002t0001g0113 a0003c0002t0001g0123 a0003c0018t0002g0117 a0004c0007t0001g0108 a0004c0007t0001g0122	9	158	0.0570	181	c.-13 others(200): Show c.-137-6704_-137-6703insTTCCCTTCCCCTTTCCCTTCCCCTTT CCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCC CTTCCCCTTTCCCTTCCCCTTCCCCTTCCCCTTTCCTTCCCCTTTCCCTT TCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCC CTTCC		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23						chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159640	T T	TCAGGGGG others(174): Show TCAGGGGGCCTCTCCCTGTGTGATGCTGGGGGGTCCTCTCCCTATGTGAT GCTCAGGGGGCCTCTCCCTGTGTGATGCTGGGGGCATGTCTTCCTGTGTG ATACTGGGGGGGCCTCTTCCTGTGTGATACTGGGGGGTCTCTTCCTGTGT GATGCTGGGGGGCCTCTCCCTATGTGATGCTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0007 a0005c0012t0007	a0005c0012t0007g0047 a0005c0012t0007g0047	1	158	0.0063	181	c.222 others(200): Show c.2221-3569_2221-3568insCAGGGGGCCTCTCCCTGTGTGATGCT GGGGGGTCCTCTCCCTATGTGATGCTCAGGGGGCCTCTCCCTGTGTGATG CTGGGGGCATGTCTTCCTGTGTGATACTGGGGGGGCCTCTTCCTGTGTGA TACTGGGGGGTCTCTTCCTGTGTGATGCTGGGGGGCCTCTCCCTATGTGA TGCTC		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23						chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159898	G G	GGGGGCCT others(174): Show GGGGGCCTCTCCCTGTGTGATGCTGGGGGGGCCTCTCCCTGTGTGATGCT GGGGGCGTGTCTTCCTGTGTGATGCTGGGGGGGTCTCTCCCTGTGTGATG CTGGGGGGGTCTCCCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTGATG CTGGGGGGCCTCTCGCTGTGTGATGCTGGGGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA20300.hp1 HG01884.hp2 NA20300.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0009 a0002c0010t0009	a0002c0010t0009g0086 a0002c0010t0009g0089 a0002c0010t0009g0086 a0002c0010t0009g0089	2	158	0.0127	181	c.222 others(200): Show c.2221-3308_2221-3307insGCCTCTCCCTGTGTGATGCTGGGGGG GCCTCTCCCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTGATGCTGGGG GGGTCTCTCCCTGTGTGATGCTGGGGGGGTCTCCCTGTGTGATGCTGGGG GCGTGTCTTCCTGTGTGATGCTGGGGGGCCTCTCGCTGTGTGATGCTGGG GAGGG		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNH1_chr1_210673314_211139148	210718378	G G	GCATATAT others(174): Show GCATATATTTAATGCATAAATATATGCATATATTTAATACATAAATATAT GCATATATTTATATATTAAAATATATACATATATTTATATATTAAAATAT ATACATATATTTATATATAAAATATATACATATATTTATATATATAAATA TATACATATATTTATATATATATAAATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0149 a0001c0002t0014g0149	1	164	0.0061	181	c.211 others(202): Show c.2113-34241_2113-34240insTATATATTTATATATATATAAATA TATGTATATATTTATATATATAAATATATGTATATATTTTATATATAAAT ATATGTATATATTTTAATATATAAATATATGTATATATTTTAATATATAA ATATATGCATATATTTATGTATTAAATATATGCATATATTTATGCATTAA ATATATG		KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10						chr1	TogoVar
KCNH7_chr2_162366407_162843767	162752903	A A	AAAAAAGA others(174): Show AAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	100	0.0100	181	c.307 others(200): Show c.307+83633_307+83634insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTT		KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15						chr2	TogoVar
KLHL1_chr13_69695597_70113452	69721079	A A	ATATATAT others(174): Show ATATATATATATATATATATATATATATATATATATATATACATATATAT ATATATATATATATATATATATATATATATATACATATATACAAATTCCT TGTAAGGGAGGTACATAGCTTTATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	182	0.0055	181	c.180 others(200): Show c.1803-1499_1803-1498insATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATAAAGCTATGTACCTCC CTTACAAGGAATTTGTATATATGTATATATATATATATATATATATATAT ATATATATATATATGTATATATATATATATATATATATATATATATATAT ATATA		KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10						chr13	TogoVar
KRTAP5-4_chr11_1615958_1627138	1621779	C C	CCCACAGG others(174): Show CCCACAGGAGCCACAGCCCCCCTTGGACCCCCCACAGGAGACACAGCCCC CCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAACCCCCACAGGAG ACACAGCCCCCCTTGGAGCCCCCACAGGAGCCACAGCCCCCCTTGGAACC CCCACAGGAGCCACAGCCCCCCTTGGAGCCCA	frameshift_variant frameshift_variant	HIGH	NA18989.hp2 NA18989.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0005 a0012c0015t0005	a0012c0015t0005g0000 a0012c0015t0005g0000	1	427	0.0023	181	c.314 others(188): Show c.314_315insTGGGCTCCAAGGGGGGCTGTGGCTCCTGTGGGGGTTCC AAGGGGGGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGGCTGTGTCTCCTG TGGGGGTTCCAAGGGGGGCTGTGGCTCCTGTGGGGGTTCCAAGGGGGGCT GTGTCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGG	p.Ser others(5): Show p.Ser107fs	KRTAP5-4	ENSG00000241598.6	transcript	ENST00000399682.1	protein_coding	1/1	359/1181	314/687	105/228			chr11	TogoVar
LAMA5_chr20_62304065_62372312	62360489	T T	TGGGTGGA others(174): Show TGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTG GGTGGGTGGGTGGAGGAATAGATGGGTGGGTGGGTGGGTGGGTGGATGGA TAGGTGGGTGGGTGGGTGGAGGAATAGATGGGTGGGTGGATGGATAGGTG GATGGGTGGGTGGAGGAATAGATGGGTGGGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0032 a0032	a0032c0106 a0032c0106	a0032c0106t0001 a0032c0106t0001	a0032c0106t0001g0154 a0032c0106t0001g0154	1	186	0.0054	181	c.450 others(198): Show c.450+1910_450+1911insCACCCACCCATCTATTCCTCCACCCACC CATCCACCTATCCATCCACCCACCCATCTATTCCTCCACCCACCCACCCA CCTATCCATCCACCCACCCACCCACCCACCCATCTATTCCTCCACCCACC CACCCACCTATCCATCCACCCACCCACCCACCCACCCATCTATCCCTCCA CCC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79						chr20	TogoVar
LAMC1_chr1_183018420_183150592	183149880	T T	TCCTCACA others(174): Show TCCTCACACACCACACAGCCCACACCCCTCTCCTCACACACCAGACAGCT CACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCAC ACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCTCACACCC CTGTCCTCCTCACAAACCACACAGCCCACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0003 a0001c0043t0003	a0001c0043t0003g0277 a0001c0043t0003g0277	1	308	0.0033	181	c.70 others(192): Show c.7090_*7091insCCTCACACACCACACAGCCCACACCCCTCTCCTC ACACACCAGACAGCTCACACCCCTCTCCTCCTCACACACCACACAGCTCA CACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACC ACACAGCTCACACCCCTGTCCTCCTCACAAACCACACAGCCCACACC		LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding					4289		chr1	TogoVar
LCN15_chr9_136754634_136769518	136769349	A A	ACCCCCCC others(174): Show ACCCCCCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCC CGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCC CCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACT GCCCCCCCCGCCACCCCTCCATGCACTGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	356	0.0028	181	c.-48 others(192): Show c.-4862_-4861insGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAG TGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGG GCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGG GGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGGGGGG		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4832		chr9	TogoVar
LIN28B_chr6_104952107_105088332	105023528	T T	TTATATAT others(174): Show TTATATATAATATATATAATTATATTATATATAATATATATAATTATATT ATATATATATTATATAATATATATAATATATATAAAATATATATAATATA TAACCTATATATATTATATATTATATATAATATAATATATTTTATATATT TTATATATATAATATATATTATATATTTTATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	278	0.0036	181	c.199 others(198): Show c.199-2764_199-2763insTAATATATATAATTATATTATATATAAT ATATATAATTATATTATATATATATTATATAATATATATAATATATATAA AATATATATAATATATAACCTATATATATTATATATTATATATAATATAA TATATTTTATATATTTTATATATATAATATATATTATATATTTTATATAT ATA		LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
LINGO2_chr9_27932617_29218601	28848282	A A	ATACTATA others(174): Show ATACTATATATATATACTATATATATATACTATATATACACTATGCATAT ATATATACTATATATACGCATATATAGTGTATATATACTATATACACTAT ATATATAGTATATATATATACTATATATATATATAGTGTATATAGTATAG TATATATACTATATACACTATATATATAGTAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	62	0.0161	181	c.-39 others(202): Show c.-395+99535_-395+99536insATACTATATATATAGTGTATATAG TATATATACTATACTATATACACTATATATATATATAGTATATATATATA CTATATATATAGTGTATATAGTATATATACACTATATATGCGTATATATA GTATATATATATGCATAGTGTATATATAGTATATATATATAGTATATATA TATAGTA		LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6						chr9	TogoVar
LKAAEAR1_chr20_64078376_64089398	64088732	A A	AGAGTGGC others(174): Show AGAGTGGCCAGGATCTGTGCAGGGAAGGCAGGATCTGTGCAGAGTGGCCA GGATCTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTGTGC AGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCA GGATCTGTGCAGGGAGGGCAGGATCTGTGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02895.hp2 HG01167.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	102	0.0196	181	c.-45 others(192): Show c.-4514_-4513insCTGCACAGATCCTGCCCTCCCTGCACAGATCCTG GCCACTCTTCACAGATCCTGGCCACTCTGCACAGATCCTGGCCTCCCTGC ACAGATCCTGGCCACTCTTCACAGATCCTGGCCACTCTGCACAGATCCTG GCCACTCTGCACAGATCCTGCCTTCCCTGCACAGATCCTGGCCACTC		LKAAEAR1	ENSG00000171695.11	transcript	ENST00000302096.5	protein_coding					4335		chr20	TogoVar
LKAAEAR1_chr20_64078376_64089398	64088777	G G	GGCAGGAT others(174): Show GGCAGGATCTGTGCAGAGTGGGCAGGATCTGTGCAGAGTGGCCAGGATCT GTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCCGTGCAGAGTG GCCAGGATCCGTGCAGAGTGGCCAGGATCCGTGCAGGGAGGCCATGATCT GTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	102	0.0098	181	c.-45 others(192): Show c.-4559_-4558insGCCACTCTGCACAGACCCTGCCCTCCCTGCACAG ATCATGGCCTCCCTGCACGGATCCTGGCCACTCTGCACGGATCCTGGCCA CTCTGCACGGATCCTGCCCTCCCTGCACAGATCCTGGCCACTCTGCACAG ATCCTGGCCACTCTGCACAGATCCTGCCCACTCTGCACAGATCCTGC		LKAAEAR1	ENSG00000171695.11	transcript	ENST00000302096.5	protein_coding					4380		chr20	TogoVar
LUC7L_chr16_183990_234449	186118	G G	GGGGAACA others(174): Show GGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGAGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGAGGA ACAGCGACACGGGGGAGGAACAGCGACACGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0290 a0001c0001t0001g0291	2	350	0.0057	181	c.30 others(192): Show c.3079_*3080insTCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CTCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCT GTTCCTCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCC		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2871		chr16	TogoVar

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