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
MPI_chr15_74885042_74907219	74894107	T T	TGTGTGTG others(216): Show TGTGTGTGTGTGTTTTCTGAGCCAGGGTCTCTTTCTGTTGCCCCAGGCTG GAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTC AAGCAATTCTCCTGCATTATTTATTTGACCCAAGCATATTTTTTTCTGTT CAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTTTTCTGAGCCAG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19057.hp1 NA18952.hp2 NA19057.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0046 a0001c0003t0016g0046	2	422	0.0047	223	c.670 others(238): Show c.670+788_670+789insTGTGTGTGTGTTTTCTGAGCCAGGGTCTCT TTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAG CCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCATTATTTATTTGACCCA AGCATATTTTTTTCTGTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCTGAGCCAGG	MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
MPI_chr15_74885042_74907219	74894107	T T	TGTTTTCT others(216): Show TGTTTTCTGAGCCAGGGTCTCTTTCTGTTGCCCCAGGCTGGAGTGCAGTG GTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATTCT CCTGCATTATTTATTTGACCCAAGCATATTTTTTTCTGTTCAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTTTTCTGAGCCAG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0131 a0001c0003t0005g0131	1	422	0.0024	223	c.670 others(238): Show c.670+788_670+789insTTTTCTGAGCCAGGGTCTCTTTCTGTTGCC CCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTC CCGGGTTCAAGCAATTCTCCTGCATTATTTATTTGACCCAAGCATATTTT TTTCTGTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCTGAGCCAGG	MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
MROH2A_chr2_233773330_233838418	233787916	A A	ATATACAT others(216): Show ATATACATATATATTATATATACATATATATTATATATACATATATATTA TATATACATATATATTATATATATACATATATATTATATATACATATATA TTATATATATACATATATATTATATATACATATATATTATATATACATAT ATATTATATATATACATATATATTATATATACATATATATTATATATACA TATATATTATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp2 HG02922.hp2 others(5): Show HG01884.hp1 HG02622.hp2 HG02922.hp2 HG02976.hp1 HG03209.hp1 HG03453.hp2 HG03579.hp2 NA19240.hp2	a0021 a0024 a0052 others(3): Show a0021 a0024 a0052 a0094 a0099 a0124	a0021c0050 a0024c0032 a0052c0166 others(3): Show a0021c0050 a0024c0032 a0052c0166 a0094c0196 a0099c0168 a0124c0167	a0021c0050t0001 a0024c0032t0001 a0052c0166t0001 others(3): Show a0021c0050t0001 a0024c0032t0001 a0052c0166t0001 a0094c0196t0001 a0099c0168t0001 a0124c0167t0001	a0021c0050t0001g0181 a0024c0032t0001g0179 a0024c0032t0001g0180 others(5): Show a0021c0050t0001g0181 a0024c0032t0001g0179 a0024c0032t0001g0180 a0024c0032t0001g0183 a0052c0166t0001g0178 a0094c0196t0001g0184 a0099c0168t0001g0182 a0124c0167t0001g0177	8	378	0.0212	223	c.277 others(240): Show c.277-1577_277-1576insCATATATATTATATATACATATATATTA TATATACATATATATTATATATACATATATATTATATATATACATATATA TTATATATACATATATATTATATATATACATATATATTATATATACATAT ATATTATATATACATATATATTATATATATACATATATATTATATATACA TATATATTATATATACATATATATTATATATACATATATATTATA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSLN_chr16_755734_773862	767718	A A	AGGGGGGC others(216): Show AGGGGGGCGCGTGGGGGTGCGTGGGGGGGCACGTGGAGGGGGGGCGTGTG GGGGGTGCGTGGAGGAGGGGCGTGTGGAGGAGGGGCCCGTGGAGGAGGGG CGAGTGGGAGGAGGGGCGTGTGGAGGGGGGGCGAGTGGAGGAGCCCCGGT GGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGAGCGGGAGGAG GGGCACGTGGAGGAGGGGCGAGCG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03927.hp1 HG00558.hp1 HG03927.hp1	a0004 a0004	a0004c0006 a0004c0021 a0004c0006 a0004c0021	a0004c0006t0001 a0004c0021t0001 a0004c0006t0001 a0004c0021t0001	a0004c0006t0001g0224 a0004c0021t0001g0298 a0004c0006t0001g0224 a0004c0021t0001g0298	2	388	0.0052	223	c.159 others(240): Show c.1596+250_1596+251insGGGGCGCGTGGGGGTGCGTGGGGGGGCA CGTGGAGGGGGGGCGTGTGGGGGGTGCGTGGAGGAGGGGCGTGTGGAGGA GGGGCCCGTGGAGGAGGGGCGAGTGGGAGGAGGGGCGTGTGGAGGGGGGG CGAGTGGAGGAGCCCCGGTGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAG GAGGGGCGAGCGGGAGGAGGGGCACGTGGAGGAGGGGCGAGCGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767791	G G	GGGTGTGG others(216): Show GGGTGTGGAGGGGGGCGCATGGGGGTGCGTGGGGGGGCGCGTGGAGGGGG GGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTG GAGGGGGCCGCGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGGCG CGTGGAGGGGGGGCGAGTGGAGGAGGGGCGCGTGGAGGGGGGGCGCGTGG AGGGGGGGCGAGTGGAGGGGGGGC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0046 a0008c0009t0002g0046	1	388	0.0026	223	c.159 others(240): Show c.1596+322_1596+323insGTGTGGAGGGGGGCGCATGGGGGTGCGT GGGGGGGCGCGTGGAGGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGC GCGTGGAGGAGGGGCGCGTGGAGGGGGCCGCGTGGGGGGGCGTGGAGGAG GGGCGCGTGGAGGGGGGGCGCGTGGAGGGGGGGCGAGTGGAGGAGGGGCG CGTGGAGGGGGGGCGCGTGGAGGGGGGGCGAGTGGAGGGGGGGCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767988	G G	GGGGGCGC others(216): Show GGGGGCGCATGGGGGTGCGTGGGGGGGCGCGTGGAGGGGGGGCGTGTGGG GGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGGTGTGGAGGGGGGGC GCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGG GGGGGCGCGTGGGGGGGTGTGGAGGGGGGCACATGGGGGTGCGTGGGGGG GCGTGTGGGGGGGTGCGTGGAGGA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0009 a0009	a0009c0031 a0009c0031	a0009c0031t0002 a0009c0031t0002	a0009c0031t0002g0353 a0009c0031t0002g0353	1	388	0.0026	223	c.159 others(240): Show c.1597-384_1597-383insATGGGGGTGCGTGGGGGGGCGCGTGGAG GGGGGGCGTGTGGGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGG TGTGGAGGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGA GGGGCGCGTGGAGGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCACATGG GGGTGCGTGGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MUC4_chr3_195741771_195816929	195816452	C C	CTTCTCCT others(216): Show CTTCTCCTTACGCAGGTGCCACATCCTCCTGCCCAGCCCGGCCTCCTTCT CCTTACGCAGGTGCCACATCCTCCTTCCCAGCCCGGCCTCCTTCTCCTTA CGCAGGTGCCACATCCTCCTGCCCAGCCCGGCCTCCTTTTCCTTACACAG GTGCCACATCCTCCTGCTCAGCCCGGCCTCCGCCCTTCTCCTTACGCAGA TGCCACATCCTCCTGCCCGGCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0104 a0104	a0104c0140 a0104c0140	a0104c0140t0002 a0104c0140t0002	a0104c0140t0002g0062 a0104c0140t0002g0062	1	249	0.0040	223	c.-46 others(234): Show c.-4636_-4635insCGGGCCGGGCAGGAGGATGTGGCATCTGCGTAAG GAGAAGGGCGGAGGCCGGGCTGAGCAGGAGGATGTGGCACCTGTGTAAGG AAAAGGAGGCCGGGCTGGGCAGGAGGATGTGGCACCTGCGTAAGGAGAAG GAGGCCGGGCTGGGAAGGAGGATGTGGCACCTGCGTAAGGAGAAGGAGGC CGGGCTGGGCAGGAGGATGTGGCACCTGCGTAAGGAGAA	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding		4524		chr3	TogoVar
MYO1C_chr17_1459186_1497686	1482669	C C	CCCCTCCC others(216): Show CCCCTCCCCTCCCCTCCCGCACTGGGCTTCTCTCCCTGCCCTCCCCTCCC CTCCCGCACTGGGCTTCTCTCCCTGCCCTCCCCTCCCCTCCTGCACTGGG CTTCTCTCCCTGCCCTCCCCTCCCCTCCCGCACTGGGCTTCTCTCCCTGC CCTCCCCTCCCCTCCTGCACTGGGCTTCTCTCCCTGCCCCTCCCCTCCCC TCCCGCACTGGGCTTCTCTCCCTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	430	0.0023	223	c.547 others(238): Show c.547-112_547-111insCAGGGAGAGAAGCCCAGTGCGGGAGGGGAG GGGAGGGGCAGGGAGAGAAGCCCAGTGCAGGAGGGGAGGGGAGGGCAGGG AGAGAAGCCCAGTGCGGGAGGGGAGGGGAGGGCAGGGAGAGAAGCCCAGT GCAGGAGGGGAGGGGAGGGCAGGGAGAGAAGCCCAGTGCGGGAGGGGAGG GGAGGGCAGGGAGAGAAGCCCAGTGCGGGAGGGGAGGGGAGGG	MYO1C	ENSG00000197879.17	transcript	ENST00000648651.1	protein_coding	4/31			chr17	TogoVar
NCS1_chr9_130167404_130242303	130221881	A A	AATATAAA others(216): Show AATATAAATTATGTATATATAAATATATATACATAATATAAATTATGTAT ATATAAATATATATACATAATATAAATTATGTATATATAAATATATATAC ATAATATAAATTATGTATATATAAATATACATAATATAAATTATGTATAT ATAAATATACATAATATAAATTATGTATATATAAATATATATACATAATA TAAATTATGTATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0137 a0001c0002t0137	a0001c0002t0137g0158 a0001c0002t0137g0158	1	348	0.0029	223	c.308 others(238): Show c.308-766_308-765insTAAATTATGTATATATAAATATATATACAT AATATAAATTATGTATATATAAATATATATACATAATATAAATTATGTAT ATATAAATATATATACATAATATAAATTATGTATATATAAATATACATAA TATAAATTATGTATATATAAATATACATAATATAAATTATGTATATATAA ATATATATACATAATATAAATTATGTATATATAAATATATATA	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
NDC80_chr18_2566557_2621635	2614564	G G	GAAGGAAG others(216): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAGGAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	402	0.0025	223	c.179 others(242): Show c.1792-1873_1792-1872insAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	NDC80	ENSG00000080986.13	transcript	ENST00000261597.9	protein_coding	16/16			chr18	TogoVar
NFATC2_chr20_51381963_51547719	51500818	A A	ACCACCCC others(216): Show ACCACCCCCCACCACCCCCACCCTCACCCCCACCCCACCCTCACCCCCAC CCCACCCTCACCCTCACCCCCACCCCACCCCCACCCTCACCCCCACCCCA CCCTCACCCCCACTACCCCCCACCCTCACCCCACCCTCACCCTCACCCCC ACCCCACCCTCACCCTCACCCCCACCCCACCCCCACCCTCACCCCCATCC TCACCCTCACCCTCACCCCCACCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0055 a0001c0003t0055	a0001c0003t0055g0128 a0001c0003t0055g0128	1	316	0.0032	223	c.133 others(244): Show c.1332+15965_1332+15966insGGGTGGGGGTGAGGGTGAGGGTGA GGATGGGGGTGAGGGTGGGGGTGGGGTGGGGGTGAGGGTGAGGGTGGGGT GGGGGTGAGGGTGAGGGTGGGGTGAGGGTGGGGGGTAGTGGGGGTGAGGG TGGGGTGGGGGTGAGGGTGGGGGTGGGGTGGGGGTGAGGGTGAGGGTGGG GTGGGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGGTGGTGGGGGGTGG	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	3/10			chr20	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(216): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATATATGTACAGTATGTATACCGTATACAGCATGTATACTGT ATATATGTACAGTATGTATACCGTATACAGTATGTATACCGTATACATAT ACAGTATGTATACCGTATACAGTATGTATACCGTATATATACACAGTATG TATACCGTATATATATACACAGTA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG04228.hp2 HG01993.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0293 a0001c0002t0003g0309 a0001c0001t0002g0293 a0001c0002t0003g0309	2	362	0.0055	223	c.-75 others(242): Show c.-75+17711_-75+17712insTACTGTGTATATATATACGGTATACA TACTGTGTATATATACGGTATACATACTGTATACGGTATACATACTGTAT ATGTATACGGTATACATACTGTATACGGTATACATACTGTACATATATAC AGTATACATGCTGTATACGGTATACATACTGTACATATATACAGTATACA TGCTGTATACAGTATACATGCTGTATACAGTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995533	C C	CTGTATAT others(216): Show CTGTATATATATACAGTATGTATACTGTATATATATACAGTATGTATACT GTATATATATACAGTATGTATACTGTATATATATACAGTATGTATACTGT ATATATATACAGTATGTATACTATATACAGTATGTATACTATATACAGTA TGTATACTATATACAGTATGTATACTATATATATACAGTATGTATACTAT ATATATACAGTATGTATACTATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0042 a0001c0007t0007g0042	1	362	0.0028	223	c.-75 others(242): Show c.-75+17534_-75+17535insATATAGTATACATACTGTATATATAT AGTATACATACTGTATATATATAGTATACATACTGTATATAGTATACATA CTGTATATAGTATACATACTGTATATAGTATACATACTGTATATATATAC AGTATACATACTGTATATATATACAGTATACATACTGTATATATATACAG TATACATACTGTATATATATACAGTATACATACTGTATATATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NTM_chr11_131365615_132341822	131789494	A A	AAGAAGAA others(216): Show AAGAAGAAGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0011 a0002c0003t0006g0011	1	86	0.0116	223	c.83- others(242): Show c.83-122069_83-122068insGAAGAAGAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTSR1_chr20_62703836_62767771	62755590	C C	CTCCATCA others(216): Show CTCCATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTC CCTCCATCCCTCCCTTCATCTATCCTCCCTCCCTCCCTCCCTCCATCCCT CTCTCCCTCCCTCCATCCATCCTCCCTCCCTCCATCACTCCCTCCCTCCA TCCATCCTCCCTCCCTCCATCCATCATCCCTCCCTCCCTCCATCCCTCAT TCCATCCCTCCCTCCCTCCCTCCA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01074.hp1 HG01516.hp1 others(3): Show HG01070.hp2 HG01074.hp1 HG01516.hp1 HG01517.hp2 HG02055.hp1 HG02818.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0018 a0003c0004t0041 a0003c0004t0008 a0003c0004t0018 a0003c0004t0041	a0003c0004t0008g0003 a0003c0004t0008g0217 a0003c0004t0018g0263 others(1): Show a0003c0004t0008g0003 a0003c0004t0008g0217 a0003c0004t0018g0263 a0003c0004t0041g0081	6	316	0.0190	223	c.916 others(238): Show c.916+764_916+765insCCCTTCATCTATCCTCCCTCCCTCCCTCCC TCCATCCCTCTCTCCCTCCCTCCATCCATCCTCCCTCCCTCCATCACTCC CTCCCTCCATCCATCCTCCCTCCCTCCATCCATCATCCCTCCCTCCCTCC ATCCCTCATTCCATCCCTCCCTCCCTCCCTCCATCCATCATCCCTCCCTC CCTCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCATCCCT	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
NTSR1_chr20_62703836_62767771	62755601	C C	CTCCCTCC others(216): Show CTCCCTCCCTCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCATCCCT CCCTTCATCTATCCTCCCTCCCTCCCTCCCTCCATCCCTCTCTCCCTCCC TCCATCCATCCTCCCTCCCTCCATCACTCCCTCCCTCCATCCATCCTCCC TCCCTCCATCCATCATCCCTCCCTCCCTCCATCCCTCATTCCATCCCTCC CTCCCTCCCTCCCTCCATCCATCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp2 HG02109.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0018 a0001c0001t0008 a0001c0001t0018	a0001c0001t0008g0296 a0001c0001t0018g0204 a0001c0001t0008g0296 a0001c0001t0018g0204	2	316	0.0063	223	c.916 others(238): Show c.916+764_916+765insCCCTTCATCTATCCTCCCTCCCTCCCTCCC TCCATCCCTCTCTCCCTCCCTCCATCCATCCTCCCTCCCTCCATCACTCC CTCCCTCCATCCATCCTCCCTCCCTCCATCCATCATCCCTCCCTCCCTCC ATCCCTCATTCCATCCCTCCCTCCCTCCCTCCCTCCATCCATCATCCCTC CCTCCATCCCTCATTCCATCCCTCCCTCCCTCCCTCCATCCCT	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
NUP93_chr16_56725129_56855286	56808456	T T	TATATAGT others(216): Show TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTATATAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0004 a0001c0001t0011g0004	1	378	0.0027	223	c.489 others(240): Show c.489+2843_489+2844insTAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATATAAAATATAGTTATGTAACTATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
OPRM1_chr6_154034240_154137356	154100218	C C	CATATATC others(216): Show CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACATATATCATAATATATATTATATTATGACATATAT CATAATATATATTATCATATTATGACATATATCATAATATATATTATCAT ATTATGACATATATCATAATATATATTATCATATTATGACATATATCATA ATATATATTATCATATTATGACAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA21309.hp1 HG03579.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0128 a0001c0001t0001g0102 a0001c0001t0001g0128	2	268	0.0075	223	c.116 others(242): Show c.1164+8750_1164+8751insATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATATTATGACATATATCATAATATATATTATCATATTATGACATATA TCATAATATATATTATCATATTATGACATATATCATAATATATATTATCA TATTATGACATATATCATAATATATATTATCATATTATGACATATAT	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
P2RY8_chrX_1457581_1542185	1468967	C C	CCCCTCTC others(216): Show CCCCTCTCCCCTCTCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCC CCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCC CCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCC TTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTT CCCTCTCCCCTCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0110 a0001c0001t0025g0110	1	114	0.0088	223	c.-24 others(240): Show c.-24-2386_-24-2385insAAGGGGAGGGGAGAGGGGAGAGGGAAGG GGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGG AGGGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAG GGGAGAGGGGAGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAG AGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGAGAGGGGAGAGGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PAK2_chr3_196734857_196837647	196811297	C C	CTCCCCTC others(216): Show CTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCCTTCC TTCCCTTCCCTTCCTTCCCTTCCCTCCCCTCCCTCCCTTCCTTCCCTTCC CTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTCCCTTCCTTCCCTT CCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTC CTTTCCTTCCTTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03453.hp2 HG02280.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0148 a0001c0001t0020g0150 a0001c0001t0020g0148 a0001c0001t0020g0150	2	178	0.0112	223	c.773 others(238): Show c.773+648_773+649insCTCCCTCCCTTCCTTCCCTTCCCTCCCTTC CTTCCCTTCCCTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCCTCCCTC CCTTCCTTCCCTTCCCTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCC TCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCT CCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(216): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCTC CTTCCTCCCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCC CCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCCTCCTCCCCTCCCCTCC CCTCCTCCCCTCCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0047 a0009c0011t0047	a0009c0011t0047g0277 a0009c0011t0047g0277	1	308	0.0033	223	c.226 others(242): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCTTCCTC CCCTCCCCCTCCTCTCCTTCCTCCCCTCCCCCCTCCTCCCCCCCTCCTCC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCC CCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCC TCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCCTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87689296	T T	TGCCACTG others(216): Show TGCCACTGCACCCCAGCCTAGGCAACACGAGCAAAACTCCATCTCAAAAA AAAAAAAAAACAAAAAAAACCCACAAAGAACTTGTGGCCTGGGGGACAGG CGCAGTGGCCCAGGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGT GGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTAACATGGTGAAACCCC GTCTCTACTAAATACAAAAAATTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00558.hp1 others(48): Show HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG01069.hp1 HG01358.hp1 HG01515.hp1 HG01516.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02080.hp1 HG02129.hp1 HG02486.hp2 HG02630.hp2 HG02809.hp2 HG03139.hp2 HG03225.hp2 HG03471.hp2 HG03579.hp2 HG03654.hp1 HG03942.hp2 HG04199.hp2 NA18954.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18986.hp1 NA18994.hp2 NA18997.hp2 NA19003.hp1 NA19005.hp2 NA19010.hp2 NA19054.hp1 NA19064.hp1 NA19064.hp2 NA19070.hp2 NA19072.hp1 NA19077.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0029 a0001c0001t0039 a0001c0002t0028	a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0030 others(48): Show a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0029 a0001c0001t0002g0051 a0001c0001t0002g0129 a0001c0001t0002g0240 a0001c0001t0003g0008 a0001c0001t0003g0024 a0001c0001t0003g0036 a0001c0001t0003g0052 a0001c0001t0003g0147 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0013 a0001c0001t0004g0130 a0001c0001t0006g0037 a0001c0001t0007g0034 a0001c0001t0008g0318 a0001c0001t0008g0331 a0001c0001t0010g0010 a0001c0001t0010g0023 a0001c0001t0010g0026 a0001c0001t0010g0028 a0001c0001t0010g0044 a0001c0001t0010g0075 a0001c0001t0010g0082 a0001c0001t0011g0064 a0001c0001t0016g0063 a0001c0001t0016g0144 a0001c0001t0022g0018 a0001c0001t0024g0142 a0001c0001t0027g0027 a0001c0001t0029g0066 a0001c0001t0039g0040 a0001c0002t0028g0033	51	372	0.1371	223	c.28- others(240): Show c.28-19895_28-19673dupCTGCACCCCAGCCTAGGCAACACGAGCA AAACTCCATCTCAAAAAAAAAAAAAAACAAAAAAAACCCACAAAGAACTT GTGGCCTGGGGGACAGGCGCAGTGGCCCAGGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCAGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCC TAACATGGTGAAACCCCGTCTCTACTAAATACAAAAAATTAGCCA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PASD1_chrX_151558675_151681739	151562909	G G	GGGGGGGC others(216): Show GGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAGCTGGGG CGGGGGGCGGGGGGGGGCGGGGGGGGGCGGGGGGGCGGGGGGGGGCGGGG GGGGCGGGGGGGCGGGGGGGCGGGGGGCGGGGGGGCGGGGGGGGGGCGGG GGGGCGGGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGCGGG GGGGCGGGGGGGGGCGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0115 a0001c0002t0006g0115	1	221	0.0045	223	c.-95 others(232): Show c.-958_-957insGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGG GGGGCAGCTGGGGCGGGGGGCGGGGGGGGGCGGGGGGGGGCGGGGGGGCG GGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGCGGGGGGGCG GGGGGGGGGCGGGGGGGCGGGGGGGGGCGGGGGGGGCGGGGGGGCGGGGG GGCGGGGGGCGGGGGGGCGGGGGGGGGCGGGGGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		765		chrX	TogoVar
PCDHGA1_chr5_141325514_141517975	141407491	A A	ATTTCTGT others(216): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01516.hp1 NA20805.hp2 HG00733.hp1 HG01516.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0003c0004t0015 a0001c0001t0001 a0003c0004t0001 a0003c0004t0015	a0001c0001t0001g0003 a0003c0004t0001g0241 a0003c0004t0015g0254 a0001c0001t0001g0003 a0003c0004t0001g0241 a0003c0004t0015g0254	3	268	0.0112	223	c.242 others(244): Show c.2421+74400_2421+74401insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA2_chr5_141333760_141517975	141407491	A A	ATTTCTGT others(216): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01516.hp2 NA20805.hp1 HG00733.hp2 HG01516.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0055 a0001c0001t0001g0120 a0001c0001t0014g0271 a0001c0001t0001g0055 a0001c0001t0001g0120 a0001c0001t0014g0271	3	272	0.0110	223	c.242 others(244): Show c.2424+66110_2424+66111insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA2	ENSG00000081853.15	transcript	ENST00000394576.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA3_chr5_141338829_141517975	141407491	A A	ATTTCTGT others(216): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01516.hp1 NA20805.hp2 HG00733.hp2 HG01516.hp1 NA20805.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0014 a0003c0003t0001 a0003c0003t0014	a0003c0003t0001g0034 a0003c0003t0001g0039 a0003c0003t0014g0050 a0003c0003t0001g0034 a0003c0003t0001g0039 a0003c0003t0014g0050	3	270	0.0111	223	c.242 others(244): Show c.2424+61048_2424+61049insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA3	ENSG00000254245.3	transcript	ENST00000253812.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA4_chr5_141350021_141517975	141407491	A A	ATTTCTGT others(216): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01516.hp1 NA20805.hp1 HG00733.hp1 HG01516.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0014 a0002c0002t0001 a0002c0002t0014	a0002c0002t0001g0234 a0002c0002t0001g0239 a0002c0002t0014g0240 a0002c0002t0001g0234 a0002c0002t0001g0239 a0002c0002t0014g0240	3	274	0.0110	223	c.251 others(244): Show c.2514+49884_2514+49885insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA4	ENSG00000262576.3	transcript	ENST00000571252.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA5_chr5_141359162_141517975	141407491	A A	ATTTCTGT others(216): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01516.hp2 NA20805.hp2 HG00733.hp2 HG01516.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0016 a0001c0002t0001 a0001c0002t0016	a0001c0002t0001g0017 a0001c0002t0001g0118 a0001c0002t0016g0119 a0001c0002t0001g0017 a0001c0002t0001g0118 a0001c0002t0016g0119	3	292	0.0103	223	c.242 others(244): Show c.2421+40754_2421+40755insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA5	ENSG00000253485.3	transcript	ENST00000518069.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA6_chr5_141368891_141517975	141407491	A A	ATTTCTGT others(216): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01516.hp2 NA20805.hp1 HG00733.hp1 HG01516.hp2 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0015 a0001c0002t0001 a0001c0002t0015	a0001c0002t0001g0269 a0001c0002t0001g0282 a0001c0002t0015g0270 a0001c0002t0001g0269 a0001c0002t0001g0282 a0001c0002t0015g0270	3	292	0.0103	223	c.242 others(244): Show c.2424+30998_2424+30999insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA6	ENSG00000253731.3	transcript	ENST00000517434.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA7_chr5_141377742_141517975	141407491	A A	ATTTCTGT others(216): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01516.hp2 NA20805.hp1 HG00733.hp2 HG01516.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0001 a0001c0023t0015 a0001c0001t0001 a0001c0023t0015	a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0023t0015g0180 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0023t0015g0180	3	292	0.0103	223	c.242 others(244): Show c.2424+22182_2424+22183insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA7	ENSG00000253537.3	transcript	ENST00000518325.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA8_chr5_141387633_141517975	141407491	A A	ATTTCTGT others(216): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01516.hp1 NA20805.hp1 HG00733.hp1 HG01516.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0014g0049 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0014g0049	3	302	0.0099	223	c.242 others(244): Show c.2424+12268_2424+12269insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA8	ENSG00000253767.3	transcript	ENST00000398604.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA9_chr5_141397778_141517975	141407491	A A	ATTTCTGT others(216): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01516.hp2 NA20805.hp2 HG00733.hp2 HG01516.hp2 NA20805.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0017 a0001c0005t0001 a0001c0005t0017	a0001c0005t0001g0288 a0001c0005t0001g0298 a0001c0005t0017g0289 a0001c0005t0001g0288 a0001c0005t0001g0298 a0001c0005t0017g0289	3	302	0.0099	223	c.242 others(242): Show c.2424+2129_2424+2130insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA9	ENSG00000261934.3	transcript	ENST00000573521.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB1_chr5_141345099_141517975	141407491	A A	ATTTCTGT others(216): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01516.hp2 NA20805.hp2 HG00733.hp1 HG01516.hp2 NA20805.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0014 a0002c0004t0001 a0002c0004t0014	a0002c0004t0001g0017 a0002c0004t0001g0022 a0002c0004t0014g0023 a0002c0004t0001g0017 a0002c0004t0001g0022 a0002c0004t0014g0023	3	278	0.0108	223	c.240 others(244): Show c.2409+54836_2409+54837insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB1	ENSG00000254221.3	transcript	ENST00000523390.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB2_chr5_141354994_141517975	141407491	A A	ATTTCTGT others(216): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01516.hp1 NA20805.hp1 HG00733.hp2 HG01516.hp1 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0018 a0003c0003t0001 a0003c0003t0018	a0003c0003t0001g0262 a0003c0003t0001g0268 a0003c0003t0018g0269 a0003c0003t0001g0262 a0003c0003t0001g0268 a0003c0003t0018g0269	3	288	0.0104	223	c.242 others(244): Show c.2421+44949_2421+44950insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB2	ENSG00000253910.3	transcript	ENST00000522605.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB3_chr5_141365242_141517975	141407491	A A	ATTTCTGT others(216): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01516.hp2 NA20805.hp1 HG00733.hp2 HG01516.hp2 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0016 a0003c0003t0001 a0003c0003t0016	a0003c0003t0001g0275 a0003c0003t0001g0288 a0003c0003t0016g0276 a0003c0003t0001g0275 a0003c0003t0001g0288 a0003c0003t0016g0276	3	296	0.0101	223	c.241 others(244): Show c.2415+34696_2415+34697insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB3	ENSG00000262209.3	transcript	ENST00000576222.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB4_chr5_141382698_141517975	141407491	A A	ATTTCTGT others(216): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01516.hp1 NA20805.hp1 HG00733.hp2 HG01516.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0015g0022 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0015g0022	3	294	0.0102	223	c.239 others(244): Show c.2397+17224_2397+17225insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB4	ENSG00000253953.3	transcript	ENST00000519479.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB5_chr5_141392947_141517975	141407491	A A	ATTTCTGT others(216): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01516.hp2 NA20805.hp2 HG00733.hp2 HG01516.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0002 a0001c0001t0023	a0001c0001t0002g0024 a0001c0001t0002g0030 a0001c0001t0023g0025 a0001c0001t0002g0024 a0001c0001t0002g0030 a0001c0001t0023g0025	3	300	0.0100	223	c.239 others(242): Show c.2397+6981_2397+6982insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB5	ENSG00000276547.2	transcript	ENST00000617380.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB6_chr5_141403021_141517975	141407491	A A	ATTTCTGT others(216): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTG CAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTAATTTTTTGCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01516.hp1 NA20805.hp2 HG00733.hp2 HG01516.hp1 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0016 a0002c0003t0001 a0002c0003t0016	a0002c0003t0001g0169 a0002c0003t0001g0173 a0002c0003t0016g0175 a0002c0003t0001g0169 a0002c0003t0001g0173 a0002c0003t0016g0175	3	302	0.0099	223	c.-71 others(232): Show c.-712_-711insTTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGCATT	PCDHGB6	ENSG00000253305.3	transcript	ENST00000520790.2	protein_coding		529		chr5	TogoVar
PDCD6_chr5_266646_319974	309579	C C	CCCAGTGA others(216): Show CCCAGTGATGGCCGCCGTCCCCGTGCACCCAGTGATGGCCGCCGTCCCCG TGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCG TCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGG CCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAG TGATGGCCGCCGTCCCCGTGCACA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	360	0.0028	223	c.368 others(240): Show c.368-1685_368-1684insAGTGATGGCCGCCGTCCCCGTGCACCCC AGTGATGGCCGCCGTCCCCGTGCACCCCAGTGATGGCCGCCGTCCCCGTG CACCCCAGTGATGGCCGCCGTCCCCGTGCACCCCAGTGAGGGCCGCCGTC CCCGTGCACCCCAGTGAGGGCCGCCGTCCCCGTGCACCCCAGTGATGGCC GCCGTCCCCGTGCACACCAGTGATGGCCGCCGTCCCCGTGCACCC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDXK_chr21_43714129_43767299	43741200	G G	GGGGGGCT others(216): Show GGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTGGCGGGGGCCTCGCGGGGG GGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTC GCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGG GGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTC GCGGGGGGCTCGCGGGGGGCTGGC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0207 a0001c0001t0002g0133 a0001c0001t0002g0207	2	358	0.0056	223	c.143 others(238): Show c.143-462_143-461insCTCGCAGGGGGGCTCGCGGGGGGCTGGCGG GGGCCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGG CTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCG GGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGG CTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PELI3_chr11_66461905_66482337	66462139	A A	AGGGAGGG others(216): Show AGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCGGAGGGGAAGGAGAAG AGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGGGGAAGGGAAGGGAAG GGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAGGGAAGGGGGAGGGG GAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGGAAGAGGAAGGGGAAG GGAAAGGGAAAGGGGAAGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	1	396	0.0025	223	c.-48 others(234): Show c.-4890_-4889insGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCG GAGGGGAAGGAGAAGAGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGG GGAAGGGAAGGGAAGGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAA GGGAAGGGGGAGGGGGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGG AAGAGGAAGGGGAAGGGAAAGGGAAAGGGGAAGGGGAGG	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding		4765		chr11	TogoVar
PELI3_chr11_66461905_66482337	66462139	A A	AGGGAGGG others(216): Show AGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCGGAGGGGAAGGAGAAG GGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGGGGAAGGGAAGGGAAG GGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAGGGAAGGGGGGAGGGG GAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGGAAGAGGAAGGGGAAG GGAAAGGGAAAGGGGAAGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	396	0.0025	223	c.-48 others(234): Show c.-4890_-4889insGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCG GAGGGGAAGGAGAAGGGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGG GGAAGGGAAGGGAAGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAG GGAAGGGGGGAGGGGGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGG AAGAGGAAGGGGAAGGGAAAGGGAAAGGGGAAGGGGAGG	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding		4765		chr11	TogoVar
PELI3_chr11_66461905_66482337	66462139	A A	AGGGAGGG others(216): Show AGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCGGAGGGGAAGGAGAAG GGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGGGGAAGGGAAGGGAAG GGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAGGGAAGGGGGAGGGG GAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGGAACAGGAAGGGGAAG GGAAAGGGAAAGGGGAAGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	396	0.0025	223	c.-48 others(234): Show c.-4890_-4889insGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCG GAGGGGAAGGAGAAGGGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGG GGAAGGGAAGGGAAGGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAA GGGAAGGGGGAGGGGGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGG AACAGGAAGGGGAAGGGAAAGGGAAAGGGGAAGGGGAGG	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding		4765		chr11	TogoVar
PELI3_chr11_66461905_66482337	66462139	A A	AGGGAGGG others(216): Show AGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCGGAGGGGAAGGAGAAG GGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGGGGAAGGGAAGGGAAG GGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAGGGAAGGGGGAGGGG GAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGGAAGAGGAAGGGGAAG GGAAAGGGAAAGGGGAAGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(364): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0008 a0002c0009 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0006t0012 a0001c0007t0001 a0001c0008t0001 a0002c0009t0001 a0003c0004t0002 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(108): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0004g0002 a0001c0001t0004g0009 a0001c0001t0004g0064 a0001c0001t0005g0002 a0001c0001t0007g0047 a0001c0001t0009g0001 a0001c0001t0010g0001 a0001c0001t0011g0001 a0001c0001t0013g0001 a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0034 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0074 a0001c0002t0001g0083 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0008 a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0033 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0095 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0101 a0001c0002t0003g0032 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0079 a0001c0002t0003g0092 a0001c0002t0006g0013 a0001c0002t0006g0034 a0001c0002t0006g0077 a0001c0002t0006g0078 a0001c0002t0008g0016 a0001c0006t0012g0025 a0001c0007t0001g0051 a0001c0008t0001g0002 a0002c0009t0001g0005 a0003c0004t0002g0100 a0004c0005t0001g0018	367	396	0.9268	223	c.-48 others(234): Show c.-4890_-4889insGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCG GAGGGGAAGGAGAAGGGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGG GGAAGGGAAGGGAAGGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAA GGGAAGGGGGAGGGGGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGG AAGAGGAAGGGGAAGGGAAAGGGAAAGGGGAAGGGGAGG	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding		4765		chr11	TogoVar
PELI3_chr11_66461905_66482337	66462139	A A	AGGGAGGG others(216): Show AGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCGGAGGGGAAGGAGAAG GGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGGGGAAGGGAAGGGAAG GGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAAGGGAAGGGGGAGGGG GAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGTAAGAGGAAGGGGAAG GGAAAGGGAAAGGGGAAGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0096 a0001c0002t0002g0096	1	396	0.0025	223	c.-48 others(234): Show c.-4890_-4889insGGGAGGGGAAGGGAAGGTGGGGGAAGGGGAGGCG GAGGGGAAGGAGAAGGGGGAAGGGGAGGGGAGGAGAGGGGGAGGGGGAGG GGAAGGGAAGGGAAGGGGGAGGGGGAGGAGAAGTGGGAGAGGAAGGGGAA GGGAAGGGGGAGGGGGAGGAGGAGTGGGAGGGGAAGGGGAGGGGAAGGGT AAGAGGAAGGGGAAGGGAAAGGGAAAGGGGAAGGGGAGG	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding		4765		chr11	TogoVar
PERM1_chr1_970198_987093	977273	T T	TCCCGCTC others(216): Show TCCCGCTCCCCCCGCCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAAC CCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTCCCGC TCCCCCCGCCAACCCCGGGAACCGCCTCCCGCTCCCCCCGCAACCCCGGG AACCGCCTCCCGCTCCCCCCGCAACCCCGGGAACCGCCTCCCGCTCCCCC CGCCAACCCCGGGAACCGCCTCCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0229 a0002c0005t0005g0229	1	408	0.0025	223	c.215 others(240): Show c.2150-650_2150-649insGGGAGGCGGTTCCCGGGGTTGGCGGGGG GAGCGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGCGGGAGGCGGTTCCCG GGGTTGCGGGGGGAGCGGGAGGCGGTTCCCGGGGTTGGCGGGGGGAGCGG GAGGCGGTTCCCGGGGTTGCGGGGGGAGCGGGAGGCGGTTCCCGGGGTTG CGGGGGGAGCGGGAGGCGGTTCCCGGGGTTGGCGGGGGGAGCGGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PEX10_chr1_2398974_2417564	2401360	C C	CTCCCTCC others(216): Show CTCCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCC CTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCC TCCTCCTCCCTTCTTCCTCCTCCTCCCTCCTCCCCCCTCCTCCCTCCCCC TCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCT CCCTCCTCCTTCCTCCCTCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0007 a0001c0001t0005g0007	1	358	0.0028	223	c.44 others(234): Show c.4405_*4406insAGGAGGAGGGAGGAAGGAGGAGGGAGGGAGGAGG AGGGAGGAAGGAGGGAGGAGGGGGGAGGAGGGAGGGAGGAGGGGGAGGGA GGAGGGGGGAGGAGGGAGGAGGAGGAAGAAGGGAGGAGGAGGGAGGAAGA AGGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGAG GGAGGGAAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGGA	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2613		chr1	TogoVar
PEX5_chr12_7184686_7216459	7196951	T T	TTATATAT others(216): Show TTATATATGTCATATATAATGTAATAATTATATGTCATATATAATGTAAT AATTATATGTCATATATAATGTAATAATTATATATGTCATATGTAATAAT TATGTCATATATAATGTAATAATTATGTCATATATAATGTAATAATTATA TATGTCATATATAATGTAATAATTATATATGTCATATACAATGTAATCAT ATGTCATATACAATGTAATAATTA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0197 a0001c0007t0003g0197	1	428	0.0023	223	c.449 others(240): Show c.449-2055_449-2054insATGTCATATATAATGTAATAATTATATG TCATATATAATGTAATAATTATATGTCATATATAATGTAATAATTATATA TGTCATATGTAATAATTATGTCATATATAATGTAATAATTATGTCATATA TAATGTAATAATTATATATGTCATATATAATGTAATAATTATATATGTCA TATACAATGTAATCATATGTCATATACAATGTAATAATTATATAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAP6_chr16_365788_386978	378516	T T	TGCCATCG others(216): Show TGCCATCGCCACCCGCACTGCCATCGCCACCCGCACTGCCATCGCCACCC TGACTGCCATCGCCACCCACACTGCCATCCCCACCCGCACTGCCATCGCC ACCCTGACTGCCATCGCCACCCACAATGCCATCCCCACCCGCACTGCCAT CGCCACCCCGCACTGCCATCCCCACCCGCACTGCCATCGCCACCCGCACT GCCATCGCCACCCACACTGCCATC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	376	0.0027	223	c.122 others(238): Show c.122-669_122-668insGATGGCAGTGTGGGTGGCGATGGCAGTGCG GGTGGCGATGGCAGTGCGGGTGGGGATGGCAGTGCGGGGTGGCGATGGCA GTGCGGGTGGGGATGGCATTGTGGGTGGCGATGGCAGTCAGGGTGGCGAT GGCAGTGCGGGTGGGGATGGCAGTGTGGGTGGCGATGGCAGTCAGGGTGG CGATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGCGATGGC	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PGGHG_chr11_284126_301107	294512	A A	ACCCCAGG others(216): Show ACCCCAGGCTGTCCCTCACCCCCAGACTGCCCTCTCACCCCCAGGCTGCC CCTCACCCCCAGACTGCCCTCTCACCCCCAGGCTGCCCTCTCACCCCCAG GCTGCCCCTCACCCCCAGACTGCCCTCTCACCCCCAGGCTGCCCTCTCAC CCCCAGGCTGCCCCTCACCCCCAGGCTGCCCTCTCACCCCCAGGCTGCCC CTCACCCCCAGACTGCCCTCTCAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0057 a0001c0006t0002g0057	1	450	0.0022	223	c.202 others(238): Show c.2021-34_2021-33insTCCCTCACCCCCAGACTGCCCTCTCACCCC CAGGCTGCCCCTCACCCCCAGACTGCCCTCTCACCCCCAGGCTGCCCTCT CACCCCCAGGCTGCCCCTCACCCCCAGACTGCCCTCTCACCCCCAGGCTG CCCTCTCACCCCCAGGCTGCCCCTCACCCCCAGGCTGCCCTCTCACCCCC AGGCTGCCCCTCACCCCCAGACTGCCCTCTCACCCCCAGGCTG	PGGHG	ENSG00000142102.16	transcript	ENST00000409548.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr11	TogoVar

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