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
MICAL3_chr22_17782649_18029561	17877457	T T	TATGGAGG others(191): Show TATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTGAGGG AGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGA GGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18906.hp1 HG03579.hp2 NA18906.hp1	a0004 a0007 a0004 a0007	a0004c0007 a0007c0013 a0004c0007 a0007c0013	a0004c0007t0005 a0007c0013t0003 a0004c0007t0005 a0007c0013t0003	a0004c0007t0005g0242 a0007c0013t0003g0268 a0004c0007t0005g0242 a0007c0013t0003g0268	2	243	0.0082	198	c.224 others(217): Show c.2242-5435_2242-5434insCACCTCCATAATCTCCCTAACCTCCA TAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACC TCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AATCTCCCTAACCTCCATAACCTCCCTCACCTCCATAATCTCCCTAACCT CCATAACTTCCCTAACCTCCAT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877457	T T	TATGGAGG others(191): Show TATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGGTGAGGG AGGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATT ATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGA GGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0019 a0019	a0019c0034 a0019c0034	a0019c0034t0033 a0019c0034t0033	a0019c0034t0033g0270 a0019c0034t0033g0270	1	242	0.0041	198	c.224 others(217): Show c.2242-5435_2242-5434insCACCTCCCTAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACC TCCATAACCTCCCTCACCTCCATAATCTCCCTAACCTCCATAACTTCCCT AACCTCCATAACCTCCATAACCTCCCTCACCTCCATAATCTCCCTAACCT CCATAACTTCCCTAACCTCCAT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877508	G G	GGTTATGG others(191): Show GGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGA GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAG GGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0144 a0001c0001t0004g0144	1	272	0.0037	198	c.224 others(217): Show c.2242-5486_2242-5485insTTCCCTAACCTCCATAACCTCCCTAA CCTCCATAATCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCC ATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTCACCTCCATAAC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MLIP_chr6_54106443_54271280	54251553	A A	ATAATATA others(191): Show ATAATATATAGTATATATATTATATATTTATATATTTATATATAATTTAT ATATAATATATATTATATAATATATAATATATTATATTATATATTATATA ATATAATATATAATATATTATATTATATATTATATAATATATAATATTAT ATATAATAACATAATATATAATATAAATATATATTATAGCATATAATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	172	0.0058	198	c.292 others(217): Show c.2923-5755_2923-5754insTAATATATAGTATATATATTATATAT TTATATATTTATATATAATTTATATATAATATATATTATATAATATATAA TATATTATATTATATATTATATAATATAATATATAATATATTATATTATA TATTATATAATATATAATATTATATATAATAACATAATATATAATATAAA TATATATTATAGCATATAATAT	MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding	12/13			chr6	TogoVar
MLPH_chr2_237482251_237560322	237544369	G G	GACAGTGG others(191): Show GACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGG AGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGCACGGTAGTG AGTGGAGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTTGGGGGACAG TGGTGAGTTGGGGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGGGC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0087 a0002c0002t0001g0087	1	281	0.0036	198	c.153 others(217): Show c.1539+1710_1539+1711insACAGTGGTGAGTGGGGACAGTGGTGA GTGGAGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAG TGGTGAGTGGGGGCACGGTAGTGAGTGGAGGGGACAGTGGTGAGTTGGGG GACAGTGGTGAGTTGGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTG GGGGCACGGTAGTGACTGGGGC	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MPPED1_chr22_43407014_43512848	43500293	T T	TGGTGGTG others(191): Show TGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGG GTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGT GGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGG TGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG02809.hp1 HG01884.hp2 HG02486.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0002t0004 a0001c0001t0002 a0001c0002t0002 a0001c0002t0004	a0001c0001t0002g0002 a0001c0002t0002g0088 a0001c0002t0004g0027 a0001c0001t0002g0002 a0001c0002t0002g0088 a0001c0002t0004g0027	3	243	0.0123	198	c.748 others(215): Show c.748+1950_748+1951insATGGGGGTGGTGGTGGTGATGGTGATGG AGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTG GTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGG TGATGGTGATGGAGGTGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(191): Show TGTATATATATATATGTATATATATATGTATATATATGTATATATATATA TGTATATATATATGTATATATATATGTATATATATATGTATATATATATG TATATATATATGTATATATATATGTATATATATGTGTATATATATGTATA TATATATATGTATATATATGTATATATATATATGTATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0018	a0002c0003t0018g0094 a0002c0003t0018g0094	1	59	0.0169	198	c.484 others(213): Show c.484-693_484-692insGTATATATATATATACATATATATATATAC ATATATATACATATATATATATACATATATATACACATATATATACATAT ATATATACATATATATATACATATATATATACATATATATATACATATAT ATATACATATATATATACATATATATATATACATATATATACATATATAT ATACATATATATATATAC	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(191): Show TGTATATATATATATGTATATATATATGTATATATATGTGTATATATATA TGTATATATATATGTATATATATATGTATATATATATGTATATATATATG TATATATATATGTATATATATATGTATATATATGTGTATATATATGTATA TATATATATGTATATATATGTATATATATATATGTATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02965.hp1 NA20129.hp1 HG02451.hp1 HG02965.hp1 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0090 a0002c0003t0001g0072 a0002c0003t0001g0073 a0002c0003t0001g0090	3	61	0.0492	198	c.484 others(213): Show c.484-693_484-692insGTATATATATATATACATATATATATATAC ATATATATACATATATATATATACATATATATACACATATATATACATAT ATATATACATATATATATACATATATATATACATATATATATACATATAT ATATACATATATATATACATATATATATACACATATATATACATATATAT ATACATATATATATATAC	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MSLN_chr16_755734_773862	767867	A A	AGGGGCGC others(191): Show AGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGG AGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGC GTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGG CGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0012 a0005c0005t0001g0012	2	311	0.0064	198	c.159 others(215): Show c.1596+411_1596+412insGGGGAGCGTGGGGGGCGTGGAGGAGGGG CGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGA GGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGA GGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCG TGGAGGGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767941	G G	GCGTGGAG others(191): Show GCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGC GTGGGGGGGCACGTGGAGGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGG GCGCGTGGAGGAGGGGCGCGTGGAGGGGGGGCGCGTGGAGGGGGGGCGAG TGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGAGGGGTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0255 a0004c0006t0001g0255	1	385	0.0026	198	c.159 others(215): Show c.1597-430_1597-429insGGGGCGCGTGGGGGGGTGTGGAGGGGGG CGCGTGGGGGTGCGTGGGGGGGCACGTGGAGGGGGGGCGTGTGGGGGGGT GCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGGCGCGTG GAGGGGGGGCGAGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCG TGGAGAGGGGTTCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	769164	G G	GCCCCAGC others(191): Show GCCCCAGCCCCGGCCCCGGCCCCAGCCCCGGCCCCACCCCCGGCCCCAGC CCCAGCCCCAGCCCCAGCCCCACCCCCGGCCCCAGCCCCAGCCCCAGCCC CAGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCCAGCCCCG GCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	358	0.0028	198	c.43 others(207): Show c.431_*432insCCCCAGCCCCGGCCCCGGCCCCAGCCCCGGCCCCAC CCCCGGCCCCAGCCCCAGCCCCAGCCCCAGCCCCACCCCCGGCCCCAGCC CCAGCCCCAGCCCCAGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCC GGCCCCAGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGG CCCCGGCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		303		chr16	TogoVar
MSLN_chr16_755734_773862	769170	G G	GCCCCGGC others(191): Show GCCCCGGCCCCGGCCCCAGCCCCGGCCCCACCCCCGGCCCCAGCCCCAGC CCCAGCCCCAGCCCCACCCCCGGCCCCAGCCCCAGCCCCAGCCCCAGCCC CGGCCCCACCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCCAGCCCCG GCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0298 a0002c0002t0002g0298	1	351	0.0028	198	c.43 others(207): Show c.437_*438insCCCCGGCCCCGGCCCCAGCCCCGGCCCCACCCCCGG CCCCAGCCCCAGCCCCAGCCCCAGCCCCACCCCCGGCCCCAGCCCCAGCC CCAGCCCCAGCCCCGGCCCCACCCCCACCCCCACCCCCGGCCCCGGCCCC GGCCCCAGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGG CCCCGGCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		309		chr16	TogoVar
MSLN_chr16_755734_773862	769193	A A	ACCCCCGG others(191): Show ACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGG CCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCC CCGGCCCCGGCCCCACCCCCACCCCCAGCCCCGGCCCCACCCCCGGCCCC AGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0003 a0002c0015t0003	a0002c0015t0003g0172 a0002c0015t0003g0172	1	305	0.0033	198	c.46 others(207): Show c.460_*461insCCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCA CCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGC CCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCACCCCCAGCCCCGGCCC CACCCCCGGCCCCAGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCG GCCCCGGCCCCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		332		chr16	TogoVar
MSLN_chr16_755734_773862	769211	A A	AGCCCCAG others(191): Show AGCCCCAGCCCCAGCCCCAGCCCCACCCCCGGCCCCAGCCCCAGCCCCAG CCCCAGCCCCAGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCC CCAGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCC GGCCCCAGCCCCAGCCCCGGCCCCACCCCCACCCCCACCCCCGGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0306 a0002c0002t0002g0306	1	298	0.0034	198	c.47 others(207): Show c.478_*479insGCCCCAGCCCCAGCCCCAGCCCCACCCCCGGCCCCA GCCCCAGCCCCAGCCCCAGCCCCAGCCCCGGCCCCACCCCCACCCCCGGC CCCGGCCCCGGCCCCAGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCC CACCCCCGGCCCCGGCCCCAGCCCCAGCCCCGGCCCCACCCCCACCCCCA CCCCCGGCCCCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		350		chr16	TogoVar
MSLN_chr16_755734_773862	769224	G G	GCCCCAGC others(191): Show GCCCCAGCCCCAGCCCCAGCCCCACCCCCGGCCCCAGCCCCAGCCCCAGC CCCGGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCCAGCCC CGGCCCCGGCCCCACCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCG GCCCCACCCCCGGCCCCGGCCCCAGCCCCAGCCCCGGCCCCACCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0002 a0017c0019t0002	a0017c0019t0002g0286 a0017c0019t0002g0286	1	369	0.0027	198	c.49 others(207): Show c.491_*492insCCCCAGCCCCAGCCCCAGCCCCACCCCCGGCCCCAG CCCCAGCCCCAGCCCCGGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCC CCGGCCCCAGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCGGCCCC ACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCAGCCCCAGCCCCGG CCCCACCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		363		chr16	TogoVar
MTSS1_chr8_124545784_124733473	124717411	T T	TCTTGAAC others(191): Show TCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGC ACACTCCGGCCTGGGGGACAGATACTCGGGAGGCTGAGGCAGGAGAATCA CTTGAACCTGGGAGGCAGAGGTGGCAGCGAGCCAAGATTGCACCACTGCA CACTCCGGCCTGGGGGACAGATACTCGGGAGGCTGAGGCAGGAGAATCA	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA18943.hp1 HG01070.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0148 a0001c0001t0001g0133 a0001c0001t0001g0148	2	234	0.0085	198	c.72+ others(215): Show c.72+10472_72+10473insTGATTCTCCTGCCTCAGCCTCCCGAGTA TCTGTCCCCCAGGCCGGAGTGTGCAGTGGTGCAATCTTGGCTCGCTGCCA CCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAT CTGTCCCCCAGGCCGGAGTGTGCAGTGGTGCAATCTTGGCTCACTGCAAC CTCTGCCTCCCAGGTTCAAG	MTSS1	ENSG00000170873.19	transcript	ENST00000518547.6	protein_coding	1/13			chr8	TogoVar
MUC4_chr3_195741771_195816929	195762589	C C	CACGCACC others(191): Show CACGCACCCGGCCCTGCACCGCCACGCACCGGGCCCTGCACCGCCACGCA CCGGGCCCGGCACCACAACGCACTCGGCCCTGCACCGCCACGCACCGGGC CCTGCACCGCCACGCACCGGGCCCGGCACCACAACGCACCCGGCCCTGCA CCGCCACGCACCCGGCCCTGCACCGCCACGCACCGGGCCCGGCACCACA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0029 a0029	a0029c0036 a0029c0036	a0029c0036t0002 a0029c0036t0002	a0029c0036t0002g0192 a0029c0036t0002g0192	1	245	0.0041	198	c.143 others(217): Show c.14344+265_14344+266insTGTGGTGCCGGGCCCGGTGCGTGGCG GTGCAGGGCCGGGTGCGTGGCGGTGCAGGGCCGGGTGCGTTGTGGTGCCG GGCCCGGTGCGTGGCGGTGCAGGGCCCGGTGCGTGGCGGTGCAGGGCCGA GTGCGTTGTGGTGCCGGGCCCGGTGCGTGGCGGTGCAGGGCCCGGTGCGT GGCGGTGCAGGGCCGGGTGCGT	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	13/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195762641	G G	GGGCCCGG others(191): Show GGGCCCGGCACCACAACGCACTCGGCCCTGCACCGCCACGCACCGGGCCC TGCACCGCAACGCACCCGGCCCTGCACCGCAACGCACCGGGCCCTGCACC GCCACGCACCCGGCCCTGCACCGCCACGCACCAGGCCCTGCACCGCCACG CACCAGGCCCTGCACCGCCACGCGCCCGGCCCTGCACCACAACGCACCC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02451.hp2 HG02486.hp1 others(1): Show HG01975.hp1 HG02451.hp2 HG02486.hp1 HG02895.hp1	a0050 a0065 a0066 others(1): Show a0050 a0065 a0066 a0078	a0050c0143 a0065c0142 a0066c0118 others(1): Show a0050c0143 a0065c0142 a0066c0118 a0078c0146	a0050c0143t0004 a0065c0142t0004 a0066c0118t0004 others(1): Show a0050c0143t0004 a0065c0142t0004 a0066c0118t0004 a0078c0146t0004	a0050c0143t0004g0224 a0065c0142t0004g0223 a0066c0118t0004g0229 others(1): Show a0050c0143t0004g0224 a0065c0142t0004g0223 a0066c0118t0004g0229 a0078c0146t0004g0235	4	80	0.0500	198	c.143 others(217): Show c.14344+213_14344+214insGGGTGCGTTGTGGTGCAGGGCCGGGC GCGTGGCGGTGCAGGGCCTGGTGCGTGGCGGTGCAGGGCCTGGTGCGTGG CGGTGCAGGGCCGGGTGCGTGGCGGTGCAGGGCCCGGTGCGTTGCGGTGC AGGGCCGGGTGCGTTGCGGTGCAGGGCCCGGTGCGTGGCGGTGCAGGGCC GAGTGCGTTGTGGTGCCGGGCC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	13/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195762641	G G	GGGCCCGG others(191): Show GGGCCCGGCACCACAACGCACTCGGCCCTGCACCGCCACGCACCGGGCCC TGCACCGCAACGCACCCGGCCCTGCACCGCAACGCACCGGGCCCTGCACC GCCACGCACCCGGCCCTGCACCGCCACGCACCAGGCCCTGCACCGCCACG CGCCCGGCCCTGCACCGCCACGCGCCCGGCCCTGCACCACAACGCACCC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0045 a0005c0016t0001g0045	1	77	0.0130	198	c.143 others(217): Show c.14344+213_14344+214insGGGTGCGTTGTGGTGCAGGGCCGGGC GCGTGGCGGTGCAGGGCCGGGCGCGTGGCGGTGCAGGGCCTGGTGCGTGG CGGTGCAGGGCCGGGTGCGTGGCGGTGCAGGGCCCGGTGCGTTGCGGTGC AGGGCCGGGTGCGTTGCGGTGCAGGGCCCGGTGCGTGGCGGTGCAGGGCC GAGTGCGTTGTGGTGCCGGGCC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	13/24			chr3	TogoVar
MUSK_chr9_110663791_110811558	110681088	T T	TATATTAA others(191): Show TATATTAATATTATATATATTATATAATATTATATATATTATATAATATA TATTATATATAATATATATTATATTATATATTATATTATATATATAATAT ATATAATATAATATATAATATAATATATATTATATATAATATATATTATA TTATATATTATATTATATATATTATATATATAATATAATATATAATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp1 HG01884.hp1 others(4): Show HG00735.hp2 HG01109.hp1 HG01884.hp1 HG02976.hp2 HG03098.hp2 HG03471.hp2 NA19043.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0004 a0006c0008 a0001c0001 a0002c0004 a0006c0008	a0001c0001t0003 a0001c0001t0006 a0002c0004t0018 others(1): Show a0001c0001t0003 a0001c0001t0006 a0002c0004t0018 a0006c0008t0007	a0001c0001t0003g0143 a0001c0001t0006g0149 a0001c0001t0006g0150 others(4): Show a0001c0001t0003g0143 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0006g0166 a0001c0001t0006g0167 a0002c0004t0018g0151 a0006c0008t0007g0135	7	181	0.0387	198	c.80- others(213): Show c.80-1582_80-1581insTAATATTATATATATTATATAATATTATAT ATATTATATAATATATATTATATATAATATATATTATATTATATATTATA TTATATATATAATATATATAATATAATATATAATATAATATATATTATAT ATAATATATATTATATTATATATTATATTATATATATTATATATATAATA TAATATATAATATAATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MXRA5_chrX_3303565_3351652	3326168	T T	TTTATAAT others(191): Show TTTATAATATATAATTATAATTATAAATTATAAATTATAATATATAATTT ATATATTATAAATTTATAATATATAATTTATATATTATAATTTATAATAT ATAATTTATAATTATAAGTTATATATTATAATTTTTAATTATAAGTTATA ATATATAACTTATAATTATAAGTTATAATATATAACTTATAATTATAAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03492.hp1 HG01891.hp2 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0104 a0002c0002t0001g0077 a0002c0002t0001g0104	2	9	0.2222	198	c.710 others(215): Show c.710-1194_710-1193insCTTATAATTATAAGTTATATATTATAAC TTATAATTATAAGTTATATATTATAACTTATAATTAAAAATTATAATATA TAACTTATAATTATAAATTATATATTATAAATTATAATATATAAATTATA TATTATAAATTTATAATATATAAATTATATATTATAATTTATAATTTATA ATTATAATTATATATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MXRA5_chrX_3303565_3351652	3326168	T T	TTTATAAT others(191): Show TTTATAATATATAATTTATAATTATAAATTATAAATTATAATATATAATT TATATATTATAAATTATAATATATAATTTATATATTATAATTTATAATAT ATAATTTATAATTATAAGTTATATATTATAATTTTTAATTATAAGTTATA ATATATAACTTATAATTATAAGTTATAATATATAACTTATAATTATAAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02738.hp1 HG01496.hp2 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0105 a0002c0002t0001g0080 a0002c0002t0001g0105	2	9	0.2222	198	c.710 others(215): Show c.710-1194_710-1193insCTTATAATTATAAGTTATATATTATAAC TTATAATTATAAGTTATATATTATAACTTATAATTAAAAATTATAATATA TAACTTATAATTATAAATTATATATTATAAATTATAATATATAAATTATA TATTATAATTTATAATATATAAATTATATATTATAATTTATAATTTATAA TTATAAATTATATATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MYT1L_chr2_1784113_2336275	1834761	A A	AATACAGG others(191): Show AATACAGGTACTCCTCCACATACCACGGGGATGGATACAGGTACTCCTCC ACATACCACGGGGATGGATACAGGTACTCCTCCACATACCACGGAGATGG ATACAGGTACTCCTCCACATACCATGGGGATGGATACAGGTACTTCTCCA CATACCACGGGGATGGATACAGGTACTCCTCCACATACCACGGAGATGG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0008 a0001c0002t0006g0008	1	96	0.0104	198	c.308 others(217): Show c.3080+4387_3080+4388insCCATCTCCGTGGTATGTGGAGGAGTA CCTGTATCCATCCCCGTGGTATGTGGAGAAGTACCTGTATCCATCCCCAT GGTATGTGGAGGAGTACCTGTATCCATCTCCGTGGTATGTGGAGGAGTAC CTGTATCCATCCCCGTGGTATGTGGAGGAGTACCTGTATCCATCCCCGTG GTATGTGGAGGAGTACCTGTAT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	21/24			chr2	TogoVar
NALCN_chr13_101048776_101421508	101391820	T T	TAAAAAAT others(191): Show TAAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0048 a0001c0009t0004g0048	1	159	0.0063	198	c.291 others(215): Show c.291+3362_291+3363insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTTGTATTTTTT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	3/43			chr13	TogoVar
NCAPG2_chr7_158626169_158709804	158667840	C C	CCTTACCC others(191): Show CCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCTACCCTGTGGCCCT CCACCCTCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTG GGTCCCTCCGCCCTCCTTACCTACCCTGTGGCCCTCCACCCTCTTACCCA CTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	266	0.0038	198	c.148 others(217): Show c.1480-3091_1480-3090insCGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCACAGGG TAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGA CCCAGTAGTGGGTAAGAGGGTGGAGGGCCACAGGGTAGGTAAGGCGGGCG GAGGGACCCAGTAGTGGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCS1_chr9_130167404_130242303	130221881	A A	AATATAAA others(191): Show AATATAAATTATGTATATATAAATATATATACATAATATAAATTATGTAT ATATAAATATATATACATAATATAAATTATGTATATATAAATATATATAC ATAATATAAATTATGTATATATAAATATATATACATAATATAAATTATGT ATATATAAATATATATACATAAATATAAATTATGTATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp1 HG01070.hp2 others(18): Show HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG01517.hp1 HG02273.hp1 HG02451.hp1 HG03195.hp1 HG03239.hp2 HG03669.hp1 HG03834.hp1 HG04184.hp2 NA18953.hp1 NA18971.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0001t0033 a0001c0001t0036 a0001c0001t0051 a0001c0001t0052 a0001c0001t0077 a0001c0001t0085 a0001c0001t0089 a0001c0001t0110 a0001c0001t0192 a0001c0001t0195	a0001c0001t0001g0032 a0001c0001t0003g0087 a0001c0001t0004g0010 others(18): Show a0001c0001t0001g0032 a0001c0001t0003g0087 a0001c0001t0004g0010 a0001c0001t0009g0068 a0001c0001t0009g0084 a0001c0001t0009g0093 a0001c0001t0022g0161 a0001c0001t0024g0094 a0001c0001t0026g0082 a0001c0001t0033g0029 a0001c0001t0033g0030 a0001c0001t0036g0266 a0001c0001t0036g0288 a0001c0001t0051g0049 a0001c0001t0052g0147 a0001c0001t0077g0281 a0001c0001t0085g0139 a0001c0001t0089g0192 a0001c0001t0110g0031 a0001c0001t0192g0171 a0001c0001t0195g0322	21	44	0.4773	198	c.308 others(213): Show c.308-766_308-765insTAAATTATGTATATATAAATATATATACAT AATATAAATTATGTATATATAAATATATATACATAATATAAATTATGTAT ATATAAATATATATACATAATATAAATTATGTATATATAAATATATATAC ATAATATAAATTATGTATATATAAATATATATACATAAATATAAATTATG TATATATAAATATATATA	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NEGR1_chr1_71390943_72287539	71928049	C C	CACACACA others(191): Show CACACACACATATGTATATATACACATATGTATATATGTATATATACACA CATATGTATATACACATATGTATATATGTACATATACACACATATGTATA TACACATATGTATATATGTATATATACACACATATGTATATATACACATA TGTATATATGTATATATACACACATATGTATATACACATATGTATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA19043.hp1 NA21309.hp1 HG00741.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0018 a0001c0003t0007 a0001c0003t0023 a0001c0001t0018 a0001c0003t0007 a0001c0003t0023	a0001c0001t0018g0059 a0001c0003t0007g0047 a0001c0003t0023g0020 a0001c0001t0018g0059 a0001c0003t0007g0047 a0001c0003t0023g0020	3	56	0.0536	198	c.409 others(215): Show c.409+7029_409+7030insATATATACATATGTGTATATACATATGT GTGTATATATACATATATACATATGTGTATATATACATATGTGTGTATAT ATACATATATACATATGTGTATATACATATGTGTGTATATGTACATATAT ACATATGTGTATATACATATGTGTGTATATATACATATATACATATGTGT ATATATACATATGTGTGTGT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71928049	C C	CACACACA others(191): Show CACACACATATGTATATATACACATATGTATATATGTATATATACACACA TATGTATATACACACATGTATATATGTACATATACACACATATGTATATA TACACATATGTATATATGTATATATACACACATATGTATATATACACATA TGTATATATGTATATATACACACATATGTATATACACATATGTATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	54	0.0185	198	c.409 others(215): Show c.409+7029_409+7030insATATATACATATGTGTATATACATATGT GTGTATATATACATATATACATATGTGTATATATACATATGTGTGTATAT ATACATATATACATATGTGTATATATACATATGTGTGTATATGTACATAT ATACATGTGTGTATATACATATGTGTGTATATATACATATATACATATGT GTATATATACATATGTGTGT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEU4_chr2_241804193_241822413	241805787	C C	CCCTCCCC others(191): Show CCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCTCA ACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGG CCACCTTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0174 a0002c0003t0002g0174	1	279	0.0036	198	c.-34 others(209): Show c.-3491_-3490insCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC CTTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTC CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCTGC AGGCCACCCTCCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3405		chr2	TogoVar
NFILZ_chr19_8625633_8686151	8661031	C C	CTCCCTCC others(191): Show CTCCCTCCCTTCCTTCCCCCTCCCTCCCTTCCTTCCCCCTCCCTCCCTTC CTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCCCTCCCTCCCTTCCTT CCCCCTCCCTCCCTTCCTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCC CCTCCCTCCCTTCCTTCCCCCTCCCTCCCTTCCTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03041.hp2 HG03486.hp2 HG02630.hp1 HG03041.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0042 a0001c0001t0108 a0001c0001t0011 a0001c0001t0042 a0001c0001t0108	a0001c0001t0011g0010 a0001c0001t0042g0130 a0001c0001t0108g0011 a0001c0001t0011g0010 a0001c0001t0042g0130 a0001c0001t0108g0011	3	359	0.0084	198	c.-16 others(219): Show c.-163-13508_-163-13507insTTCCCCCTCCCTCCCTTCCTTCCC CCTCCCTCCCTTCCTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCCCT CCCTCCCTTCCTTCCCCCTCCCTCCCTTCCTCCTTCCTTCCTTCCTTCCC TCCCTTCCTTCCCCCTCCCTCCCTTCCTTCCCCCTCCCTCCCTTCCTCCT TCCTTCCTTCCTTCCCTCCCTTCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995572	A A	ATATATAT others(191): Show ATATATATACAGTATGTATACTGTATATATATACAGTATGTATACTGTAT ATATATACAGTATGTATACTGTATATATATACAGTATGTATACTATATAC AGTATGTATACTATATATATACAGTATGTATACTATATATATACAGTATG TATACTATATATATACAGTATGTATACTATATATATACAGTATGTATAC	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0135 a0002c0008t0004g0135	1	161	0.0062	198	c.-75 others(217): Show c.-75+17495_-75+17496insGTATACATACTGTATATATATAGTAT ACATACTGTATATATATAGTATACATACTGTATATATATAGTATACATAC TGTATATATATAGTATACATACTGTATATAGTATACATACTGTATATATA TACAGTATACATACTGTATATATATACAGTATACATACTGTATATATATA CAGTATACATACTGTATATATA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NLRP13_chr19_55890945_55937336	55930880	A A	ATATATAT others(191): Show ATATATATATATATATATATATATATATATATATATATACACACACACGT ATATATATACATATATATATACATACACATATATATATACATATATATAC ATACACATATATATACATATATATACATACACATATATATACATATATAT ACATACACATATATATATACATACACATATATATATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0410 a0001c0002t0001g0410	1	417	0.0024	198	c.319 others(215): Show c.319+1112_319+1113insCACATATATATGTATATATATATGTGTA TGTATATATATATGTGTATGTATATATATGTATATATATGTGTATGTATA TATATGTATATATATGTGTATGTATATATATGTATATATATATGTGTATG TATATATATATGTATATATATACGTGTGTGTGTATATATATATATATATA TATATATATATATATATATA	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993574	C C	CCCCTCCC others(191): Show CCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCCTCCCCCTCC CTCCCCTCCCCTCCCCCTCCCCCTCCCTCCCCTCCCCTCCCCCCTCCCCC TCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTTCCCTCCCCCTCCCCTCCCTCCCCTCCCCTCCCCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0136 a0001c0002t0010g0136	1	348	0.0029	198	c.56 others(209): Show c.5661_*5662insCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCCCCTCCCCCTCCCTCCCCTCCCCTCCCCCTCCCCCTCCCTCCCCTCC CCTCCCCCCTCCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTTCCCTCCCCCTCCCCTCCCTCCCCTC CCCTCCCCTCCTCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4946		chr19	TogoVar
NOS3_chr7_150986017_151019588	150996124	C C	CCTGCACC others(191): Show CCTGCACCCCTCCTCCCTCTCCCCCATCCCACCCCTAAACCCCTCCTCCC TCTCCCCTGTCCCATCCCTGCACCCTTCCTCCCTCTCCCCGTCCCATCCC TGCACCCTTCCTCCCTCTCCCCGTCCCATCCCTGCACCCCTCCTCCCTCT GCTCCCATCCCACCCCTGCACCCCTCCTCCCTCTGCCCCTACCCCACCT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02074.hp2 NA18980.hp2 others(1): Show HG00621.hp1 HG02074.hp2 NA18980.hp2 NA19065.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0101 a0002c0003t0001g0102 a0002c0003t0001g0103 others(1): Show a0002c0003t0001g0101 a0002c0003t0001g0102 a0002c0003t0001g0103 a0002c0003t0001g0120	4	379	0.0106	198	c.271 others(213): Show c.271-265_271-264insCTCTCCCCCATCCCACCCCTAAACCCCTCC TCCCTCTCCCCTGTCCCATCCCTGCACCCTTCCTCCCTCTCCCCGTCCCA TCCCTGCACCCTTCCTCCCTCTCCCCGTCCCATCCCTGCACCCCTCCTCC CTCTGCTCCCATCCCACCCCTGCACCCCTCCTCCCTCTGCCCCTACCCCA CCTCTGCACCCCTCCTCC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOTCH1_chr9_136489433_136551048	136535719	G G	GGTGGAGA others(191): Show GGTGGAGAGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGT GGGTGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCATGG TGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0097 a0001c0008t0002g0097	1	302	0.0033	198	c.140 others(215): Show c.140+8304_140+8305insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCCACCCACCATGCACCCATTGCCCCAGGAGGGATCC TGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGATC CTGAGTGCTCCCCTCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535729	G G	GGAGCACT others(191): Show GGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTCGGGG GGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGGGG GGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGA GGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0262 a0001c0007t0010g0262	1	317	0.0032	198	c.140 others(215): Show c.140+8294_140+8295insACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPBWR2_chr20_64098802_64112565	64105577	G G	GCGTGATG others(191): Show GCGTGATGATGGGGGTGATGGTGGGGGTGGTGGTGGGGGTGGGGGTGATG GTGGGGGTGGGGGTGGGGGTGATGGGGGTGGGCGTGATGGTGGATGTGAT GGGGGTGGGCATGATGATGGGCGTGATGATGGGGGTGGTGGTGGGGGTGA TGGTGGGGGTGGTGGTGGGCGTGATGATGGGGGTGATGGTGGGGGTGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG00609.hp2 NA18747.hp1 others(3): Show HG00423.hp2 HG00609.hp2 NA18747.hp1 NA18966.hp2 NA19083.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0002t0024 a0001c0007t0002 a0001c0002t0002 a0001c0002t0024 a0001c0007t0002	a0001c0002t0002g0002 a0001c0002t0024g0026 a0001c0007t0002g0042 a0001c0002t0002g0002 a0001c0002t0024g0026 a0001c0007t0002g0042	6	311	0.0193	198	c.25 others(207): Show c.252_*253insACCACCCCCACCATCACCCCCATCATCACGCCCACC ACCACCCCCACCATCACCCCCACCACCACCCCCATCATCACGCCCATCAT CATGCCCACCCCCATCACATCCACCATCACGCCCACCCCCATCACCCCCA CCCCCACCCCCACCATCACCCCCACCCCCACCACCACCCCCACCATCACC CCCATCATCACG	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	252		chr20	TogoVar
NRAP_chr10_113583714_113669041	113647596	A A	AGTGGTAC others(191): Show AGTGGTACTGCCTCCCCCAGTGGTACTGTCTCCCCTGGTGGTACTGTCTC CCCCAGTGGTACTGCCTCCCCCAGTGGTACTGCCTCCCCCGGTGGTACTG CCTCCCCTGGTGGTACTTCCTCCCCTAGTGGTACTGTCTCCCCCGGTGGT ACTGTCTCCCCCGGTGGTACTTCCTCCCCTAGTGGTACTGTCTCCCCCG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0004 a0011c0016t0004	a0011c0016t0004g0297 a0011c0016t0004g0297	1	293	0.0034	198	c.889 others(213): Show c.889-570_889-569insCGGGGGAGACAGTACCACTAGGGGAGGAAG TACCACCGGGGGAGACAGTACCACCGGGGGAGACAGTACCACTAGGGGAG GAAGTACCACCAGGGGAGGCAGTACCACCGGGGGAGGCAGTACCACTGGG GGAGGCAGTACCACTGGGGGAGACAGTACCACCAGGGGAGACAGTACCAC TGGGGGAGGCAGTACCAC	NRAP	ENSG00000197893.14	transcript	ENST00000359988.4	protein_coding	9/41			chr10	TogoVar
NRIP1_chr21_14956235_15070000	15031092	C C	CGGAGGGT others(191): Show CGGAGGGTCACTACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCT CGGAGGGTCACTACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACT CAGAGGATCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTT CAGAGGTTCACCACATTCCCTTTCTATGTGTATACTCTGGAAGGCGGTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02818.hp1 NA18522.hp2 HG01884.hp1 HG02818.hp1 NA18522.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0010 a0004c0007t0020 a0001c0001t0001 a0001c0001t0010 a0004c0007t0020	a0001c0001t0001g0067 a0001c0001t0010g0069 a0004c0007t0020g0068 a0001c0001t0001g0067 a0001c0001t0010g0069 a0004c0007t0020g0068	3	281	0.0107	198	c.-45 others(219): Show c.-458+12402_-458+12403insAACCGCCTTCCAGAGTATACACAT AGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAGTGTATACACAT AGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAGTGTACACACAT AGAAAGGGAATGTAGTGACCCTCCGAGCGCCTTCCAGAGTGTACACACAT AGAAAGGGAATGTAGTGACCCTCC	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031103	C C	CACATTCC others(191): Show CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGGATCAC CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTATACTCTGGAAGGCGGTTGGAGGTTCACT	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18943.hp2 HG02015.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0353 a0001c0001t0004g0345 a0001c0001t0001g0353 a0001c0001t0004g0345	2	167	0.0120	198	c.-45 others(219): Show c.-458+12391_-458+12392insAGTGAACCTCCAACCGCCTTCCAG AGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAG TGTACACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031103	C C	CACATTCC others(191): Show CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGGTCAC TACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTATACTCTGGAAGGCGGTTGGAGGTTCACT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02132.hp1 HG02083.hp2 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0146 a0001c0001t0001g0073 a0001c0001t0001g0146	2	167	0.0120	198	c.-45 others(219): Show c.-458+12391_-458+12392insAGTGAACCTCCAACCGCCTTCCAG AGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTAGTGACCCTCCGAGCGCCTTCCAGAG TGTACACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	AATATATA others(191): Show AATATATATAATATATATTATATATATAAAGTATATATATAATATATATA ATATATATTATATATATAAAGTATATATATAATATATATAATATATATTA TATATATAAAGTACATATATAATATATATTATATATAAAGTATATATATA ATATATATTATATATATATAAAATATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0058 a0001c0003t0001g0058	1	2	0.5000	198	c.730 others(215): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATGTACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATTATATATATACTTTATATAT ATAATATATATTATATATAT	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
OLFM1_chr9_135082668_135126180	135124512	G G	GAAGGAAG others(191): Show GAAGGAAGGGGAAGGGGAAGGGGAAGGGAAGGAAGGAAGGAAGGAAGAAA GAAAGAAAGAGAAACGAAGAAAAGAAAGAAGAAAGAAAGAAAGAAAAAGG AAAGAAAGAAAAAGGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAGAA AGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0134 a0001c0005t0001g0134	1	357	0.0028	198	c.43 others(209): Show c.4334_*4335insAAGGAAGGGGAAGGGGAAGGGGAAGGGAAGGAAG GAAGGAAGGAAGAAAGAAAGAAAGAGAAACGAAGAAAAGAAAGAAGAAAG AAAGAAAGAAAAAGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAGAAAGA AAGAAAGAAAGAGAAAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding		3333		chr9	TogoVar
OR10R2_chr1_158467220_158485936	158473774	T T	TCCTCCCT others(191): Show TCCTCCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCCTCTTTCCCTCTC TGCTTCCTTCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTCCCTCCC TCCTTCCCTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTTCCCTCTTTCC CTCTCTGCTTCCTCCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18993.hp1 NA18994.hp1 others(1): Show HG02258.hp2 NA18993.hp1 NA18994.hp1 NA19067.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0034 a0003c0003t0001g0057 a0003c0003t0001g0070 a0003c0003t0001g0034 a0003c0003t0001g0057 a0003c0003t0001g0070	4	275	0.0145	198	c.27+ others(213): Show c.27+1431_27+1432insCTCCCTCCTTCCTTCCTCCCTCCTTCCCTC TTTCCCTCTCTGCTTCCTTCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTT CCTCCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTT CCCTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTTCCCTCTTTCCCTCTC TGCTTCCTCCCTCCCTCC	OR10R2	ENSG00000198965.5	transcript	ENST00000641067.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR51B5_chr11_5337586_5348524	5341326	T T	TTTTTTTT others(191): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGTGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	464	0.0022	198	c.12 others(209): Show c.1259_*1260insTTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCC AGCTACACGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	OR51B5	ENSG00000167355.8	transcript	ENST00000300773.3	protein_coding		1259		chr11	TogoVar
OSGIN1_chr16_83948240_83971332	83951976	C C	CTTCCTCC others(191): Show CTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCCC CTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCCCTCCTT CCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCT CCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTCCCCTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0001 a0006c0018t0001	a0006c0018t0001g0126 a0006c0018t0001g0126	1	348	0.0029	198	c.-14 others(209): Show c.-1427_-1426insTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTC CCTGCCTCCCTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTC CCTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTC CCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTT CCTCCTCCCCTCCA	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1263		chr16	TogoVar
OTOG_chr11_17542259_17651044	17552528	C C	CTCCCCCA others(191): Show CTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTC CTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACC TGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCC CACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0012 a0012	a0012c0147 a0012c0147	a0012c0147t0001 a0012c0147t0001	a0012c0147t0001g0119 a0012c0147t0001g0119	1	241	0.0041	198	c.292 others(213): Show c.292+493_292+494insTCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCCC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
P2RX5_chr17_3668227_3701155	3685916	G G	GCCCCCCG others(191): Show GCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGG ACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAA CAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	340	0.0029	198	c.981 others(215): Show c.981+2095_981+2096insGCGGGGGACGTTGGGAGGGTCCCTGGGG GCCCCGCTGTGTGTTCTCCTGTTCTCAGGCTGGGAGGGGGACGTTGGGAG GGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGG GGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCAGCTGTGCGTTCTCCTG TTCTGAGGCTGGGCGGGGGG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686924	C C	CAGAACAG others(191): Show CAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCCGCCCAGCCTCAGAACAGGAGAA CGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	307	0.0033	198	c.981 others(215): Show c.981+1087_981+1088insCAGGCTGGGAGGGGGACGTTGGGAGGGT CCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGG CGGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTT CTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCC GCTGTGCGTTCTCCTGTTCT	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(191): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCTC CTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCTCCCCTCCACTCCC CTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCCTTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	68	0.0147	198	c.226 others(217): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCTTCCTC CCCTCCCCCTCCTCTCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCC CCTCCCCTCCACTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCT CCACTCCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCC CCTCCCCTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar

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