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
OSGIN1_chr16_83948240_83971332	83951890	T T	TCCCTCCA others(303): Show TCCCTCCATCCCTCCTTCCCTCCCTCCCTGCCTTCCTCCCCTTTCCCTCC CTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTC CTCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTCCCTGCCTCCCTCCCT CCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCC CTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCT CCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCC TTCCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG03516.hp1 HG00639.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0003	a0001c0001t0002g0201 a0001c0003t0003g0181 a0001c0001t0002g0201 a0001c0003t0003g0181	2	64	0.0313	310	c.-15 others(321): Show c.-1513_-1512insCCCTCCATCCCTCCTTCCCTCCCTCCCTGCCTTC CTCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTCCTCCCTTCCTCCTTCC CTCCCTCCTCCTTTCCTCCTCCCCTCCATCCCTTCCTCCTTCCCTCCCTC CCTGCCTCCCTCCCTCCTTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCC TCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCCTG CCTCCCTCCTTTCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCT TTCCTCCCTCCCTCCTTCCCTCCCTC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1349		chr16	TogoVar
PADI2_chr1_17061761_17124451	17114628	T T	TAAGAAAC others(303): Show TAAGAAACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCG GGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03453.hp1 HG03453.hp2 HG02965.hp1 HG03453.hp1 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0012 a0001c0010t0006 a0001c0003t0012 a0001c0010t0006	a0001c0003t0012g0334 a0001c0010t0006g0332 a0001c0010t0006g0333 a0001c0003t0012g0334 a0001c0010t0006g0332 a0001c0010t0006g0333	3	336	0.0089	310	c.92+ others(325): Show c.92+4651_92+4652insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCATCGTTTCTT	PADI2	ENSG00000117115.13	transcript	ENST00000375486.9	protein_coding	1/15			chr1	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(303): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCC CCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCCTCCCCTC CCCCTCCTCCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCTCCCCCTCCC CTCCCCCTTCCCTCCCCCTCCCCTCCCCCTTCCCTCCCCCTCCCCTCCCC CTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTT CCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTC CCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0152 a0001c0006t0003g0152	1	68	0.0147	310	c.226 others(329): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCCTCCTC CCCTCCCCCTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCT CCCCCCTCCTCCCCTCCCCCTCCTCCCCCCTCCTCCCCTCCCCCTCCTCC CCCCTCTCCCCCTCCCCTCCCCCTTCCCTCCCCCTCCCCTCCCCCTTCCC TCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTC CCCTTCCCCTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCC CTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(303): Show GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGTGC ATATATATACATATATATGTGTGCATATATATACATATATATGTGTGCAT ATATATACATATATATGTGTGCATATATATACATATATATGTGTGCATAT ATATACATATATATGTGTGCATATATATACATATATATGTGTGCATATAT ATACATATATA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0147 a0001c0002t0006g0147	1	40	0.0250	310	c.196 others(331): Show c.1964+81221_1964+81222insGTGTGTGCATATATATACATATAT GTGTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGT GTGTGCATATATATACATATATGTGTGTGCATATATATACATATATGTGT GCATATATATACATATATATGTGTGCATATATATACATATATATGTGTGC ATATATATACATATATATGTGTGCATATATATACATATATATGTGTGCAT ATATATACATATATATGTGTGCATATATATACATATATATGTGTGCATAT ATATACATATATATGTGTGCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PARD3B_chr2_204540475_205625162	204648652	A A	AATATATT others(303): Show AATATATTTATAATATATATCATATAAATAATATATATTTATAATATATA TCATATAAATAATATATATTTATAATATATATCATATAAATAATATATAT TTATAATATATATCATATAAATAATATATATTTATAATATATATCATATA AATAATATATATTTATAATATATATCATATAAATAATATATATTTATAAT ATATATCATATAAATAATATATATTTATAATATATATCATATAAATAATA TATATTTATAATATATATCATATAAATAATATATATTTATAATATATATC ATATAAATAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02723.hp2 HG02886.hp1 others(1): Show HG02257.hp2 HG02723.hp2 HG02886.hp1 HG03130.hp2	a0001 a0008 a0010 a0001 a0008 a0010	a0001c0003 a0001c0015 a0008c0014 others(1): Show a0001c0003 a0001c0015 a0008c0014 a0010c0025	a0001c0003t0016 a0001c0015t0006 a0008c0014t0011 others(1): Show a0001c0003t0016 a0001c0015t0006 a0008c0014t0011 a0010c0025t0022	a0001c0003t0016g0046 a0001c0015t0006g0023 a0008c0014t0011g0026 others(1): Show a0001c0003t0016g0046 a0001c0015t0006g0023 a0008c0014t0011g0026 a0010c0025t0022g0009	4	26	0.1538	310	c.121 others(329): Show c.121-37453_121-37452insTATATCATATAAATAATATATATTTA TAATATATATCATATAAATAATATATATTTATAATATATATCATATAAAT AATATATATTTATAATATATATCATATAAATAATATATATTTATAATATA TATCATATAAATAATATATATTTATAATATATATCATATAAATAATATAT ATTTATAATATATATCATATAAATAATATATATTTATAATATATATCATA TAAATAATATATATTTATAATATATATCATATAAATAATATATATTTATA ATATATATCATATAAATAATATATATTTATAATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARP14_chr3_122675839_122735840	122726893	T T	TAATTTTA others(303): Show TAATTTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA19067.hp1 HG01978.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0220 a0001c0001t0012g0244 a0001c0001t0003g0220 a0001c0001t0012g0244	2	259	0.0077	310	c.494 others(327): Show c.4942-912_4942-911insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAATTTTA	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCDH11X_chrX_91774375_92628230	92550269	T T	TAAAAAGC others(303): Show TAAAAAGCATATTAGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACG GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTGG CGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCACT CCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19079.hp1 NA19012.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0069 a0001c0001t0013g0086 a0001c0001t0001g0069 a0001c0001t0013g0086	2	151	0.0132	310	c.336 others(331): Show c.3368-67982_3368-67981insGCCGGGCGTGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCAGTGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCG CGCCACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAGCATATTA	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	10/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCSK5_chr9_75885673_76367975	76280866	T T	TAAAAAAG others(303): Show TAAAAAAGAGAGGCCGGGCGCGGTGGCTCACGCCTGTAAGCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0005 a0005	a0005c0066 a0005c0066	a0005c0066t0002 a0005c0066t0002	a0005c0066t0002g0016 a0005c0066t0002g0016	1	135	0.0074	310	c.314 others(331): Show c.3143-11357_3143-11356insGGCCGGGCGCGGTGGCTCACGCCT GTAAGCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	24/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76280866	T T	TAAAAAAG others(303): Show TAAAAAAGAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02723.hp1 others(3): Show HG02109.hp2 HG02258.hp1 HG02723.hp1 HG03130.hp1 HG06807.hp2 NA20129.hp1	a0003 a0011 a0014 others(3): Show a0003 a0011 a0014 a0015 a0025 a0040	a0003c0057 a0011c0011 a0014c0087 others(3): Show a0003c0057 a0011c0011 a0014c0087 a0015c0023 a0025c0039 a0040c0064	a0003c0057t0018 a0011c0011t0004 a0014c0087t0040 others(3): Show a0003c0057t0018 a0011c0011t0004 a0014c0087t0040 a0015c0023t0004 a0025c0039t0014 a0040c0064t0001	a0003c0057t0018g0056 a0011c0011t0004g0052 a0014c0087t0040g0098 others(3): Show a0003c0057t0018g0056 a0011c0011t0004g0052 a0014c0087t0040g0098 a0015c0023t0004g0008 a0025c0039t0014g0131 a0040c0064t0001g0061	6	140	0.0429	310	c.314 others(331): Show c.3143-11357_3143-11356insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	24/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PDGFD_chr11_103902189_104169147	103983451	T T	TAAAACTA others(303): Show TAAAACTAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	198	0.0051	310	c.510 others(329): Show c.510+12613_510+12614insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTTTTTTAGTTTT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	3/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104140465	T T	TAAAACAT others(303): Show TAAAACATGTTCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGCGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	185	0.0054	310	c.124 others(329): Show c.124+23338_124+23339insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCGCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTTGAACATGTTTT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104140465	T T	TAAAACAT others(303): Show TAAAACATGTTCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02040.hp1 HG02622.hp2 others(7): Show HG00408.hp1 HG02040.hp1 HG02622.hp2 HG02809.hp2 HG02970.hp2 HG03471.hp2 NA19062.hp2 NA19077.hp1 NA19083.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0012	a0001c0001t0002g0132 a0001c0001t0003g0120 a0001c0001t0003g0128 others(7): Show a0001c0001t0002g0132 a0001c0001t0003g0120 a0001c0001t0003g0128 a0001c0001t0003g0131 a0001c0001t0003g0148 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0012g0147	10	194	0.0515	310	c.124 others(329): Show c.124+23338_124+23339insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTTGAACATGTTTT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDS5B_chr13_32581452_32783019	32605014	C C	CAAAAAAA others(303): Show CAAAAAAACCAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	332	0.0030	310	c.-20 others(329): Show c.-20+18432_-20+18433insGCCGAGGCGGGTGGATCATGAGGTCA GGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAA AATACAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCAG	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32731543	T T	TAACATAA others(303): Show TAACATAACATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp2 HG02723.hp2 others(3): Show HG02572.hp1 HG02615.hp2 HG02723.hp2 HG03579.hp1 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0016 a0001c0001t0034 a0001c0001t0007 a0001c0001t0016 a0001c0001t0034	a0001c0001t0007g0296 a0001c0001t0007g0300 a0001c0001t0007g0310 others(3): Show a0001c0001t0007g0296 a0001c0001t0007g0300 a0001c0001t0007g0310 a0001c0001t0007g0311 a0001c0001t0016g0301 a0001c0001t0034g0309	6	322	0.0186	310	c.212 others(327): Show c.2124-548_2124-547insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAACATAACAT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	19/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDXK_chr21_43714129_43767299	43741350	G G	GGGGGGCT others(303): Show GGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGC TCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCT CGCGGGGGGGCTGGCGGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTGGC GGGGGGCTGGC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0115 a0001c0001t0098g0115	1	296	0.0034	310	c.143 others(325): Show c.143-312_143-311insCTGGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGG GCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCT CGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGG GGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGG CTCGCGGGGGGGCTCGCGGGGGGGCTGGCGGGGGGGCTGGCGGGGGGGCT CGCGGGGGGCTGGCGGGGGGCTGGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PEX10_chr1_2398974_2417564	2401350	T T	TCCCTCCT others(303): Show TCCCTCCTCCTCCCTTCTTCCTCCCTCCTCCCTCCCTCCTCCCTCCCTCC TCCTCCCTCCTTCCTCCCTCCTTCCTCCTCCCTCCTTCCTCCCTCCTCCT CCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCC CTGCTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCCTCCTCCCTC CCTCCTCCCCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCC TTCCTCCCTCCTCCTTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTTCC TCCCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0036 a0001c0002t0004g0036	1	351	0.0028	310	c.44 others(321): Show c.4415_*4416insGGAGGGAGGGAGGAAGGAGGGAGGAGGAGGGAGG AAGGAGGGAGGAAGGAGGAGGGAGGAAGGAGGAGGGAGGGAGGAGGAGGG AGGAAGGAGGGAGGAGGGGGGAGGAGGGAGGGAGGAGGGGGGAGGGAGGA GGGGGAGGAGGGAGGAGGAGGAAGCAGGGAGGAGGAGGGAGGAAGAAGGG AGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGGAG GAGGAAGGAGGGAGGAAGGAGGGAGGAGGAGGGAGGGAGGAGGGAGGGAG GAGGGAGGAAGAAGGGAGGAGGAGGG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2623		chr1	TogoVar
PIEZO2_chr18_10665247_11154569	10911130	G G	GAAATTAC others(303): Show GAAATTACTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGC TAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA20805.hp1 HG00639.hp2 NA20805.hp1	a0012 a0022 a0012 a0022	a0012c0079 a0022c0091 a0012c0079 a0022c0091	a0012c0079t0002 a0022c0091t0001 a0012c0079t0002 a0022c0091t0001	a0012c0079t0002g0125 a0022c0091t0001g0017 a0012c0079t0002g0125 a0022c0091t0001g0017	2	152	0.0132	310	c.329 others(323): Show c.329+55_329+56insTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCAGTAATTT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(303): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGGAAGAGGGGAGGGGAGGAGATGG GAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGG AGGGAAGAGGGAAAGAGGGGGAGGGGAGGGGAAGAGGGGAAGGGAGGGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGGGGAGGGAGAGGAGGAGGGAAGGGGGAAGAGGGGAT GGGGAGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	29	0.0345	310	c.53 others(321): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGGAAGAGGG GAGGGGAGGAGATGGGAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAT AGGGGAGGGGAGAGGAGGGAAGAGGGAAAGAGGGGGAGGGGAGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGG GGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGAGAGGAGGAGGGAA GGGGGAAGAGGGGATGGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(303): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGGAAGAGGGGAGGGGAGGAGATGG GAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGG AGGGAAGAGGGAAAGAGGGGGAGGGGAGGGGAAGAGGGGAAGGGAGGGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGGGGAGGGAGAGGAGGAGGGAAGGGGGAAGAGGGGAT GGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0046 a0001c0001t0054g0046	1	18	0.0556	310	c.262 others(325): Show c.2620-82_2620-81insTTCCCCTCCCCATCCCCTCTTCCCCCTTCC CTCCTCCTCTCCCTCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCC TCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTC TTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTT CCCCTCCCCTCCCCCTCTTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTC CCCCTCCCCTCCCTTCCCCTCTTCCCCCCTCCCATCTCCTCCCCTCCCCT CTTCCCCCCTCCCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PKN2_chr1_88679273_88841255	88753699	T T	TACACACT others(303): Show TACACACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0036 a0001c0005t0014g0037 a0001c0005t0014g0036 a0001c0005t0014g0037	2	314	0.0064	310	c.350 others(327): Show c.350-6513_350-6512insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGACACACTTTT	PKN2	ENSG00000065243.20	transcript	ENST00000370521.8	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PKP3_chr11_389209_409908	401535	C C	CGCCCCGC others(303): Show CGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGC TCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTC ACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCC CCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGC CCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCACCCCCGGCCCC GCTCACCCCCG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0099 a0001c0003t0001g0099	1	175	0.0057	310	c.173 others(327): Show c.1737+841_1737+842insACCCGCCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACA CCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCC GGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGAC CCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCAC CCCCGGCCCCGCTCACCCCCGGCCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLAT_chr8_42169718_42212565	42182378	T T	TGTAGTGT others(303): Show TGTAGTGTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGA CTACAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02129.hp1 NA18987.hp2 HG01516.hp2 HG02129.hp1 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0131 a0001c0001t0001g0163 a0001c0001t0001g0116 a0001c0001t0001g0131 a0001c0001t0001g0163	3	208	0.0144	310	c.803 others(325): Show c.803+340_803+341insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAA AATAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAGAACACTAC	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	8/13			chr8	TogoVar
PLAT_chr8_42169718_42212565	42182378	T T	TGTAGTGT others(303): Show TGTAGTGTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGA CTACAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	206	0.0049	310	c.803 others(325): Show c.803+340_803+341insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAA AATAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAGAACACTAC	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	8/13			chr8	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(303): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATAATATATTATATA TAATATATTATATATATTATATTATATATAATATATTATATATAATATAT TATATATAATATATTATATATAATATATTATATATAATATATTATATATA ATATATTATATATAATATATTATATATATTATATTATATATAATATATTA TATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	31	0.0323	310	c.-50 others(321): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATATTATATATAATATATTATATATAA TATATTATATATAATATATTATATATAATATATTATATATAATATATTAT ATATAATATAATATATATAATATATTATATATAATATATTATATATAATA TATTATATATAATATAATATATATAAATATATTTTTATATATAATAATTA TATTATATATAATATATTTTTATATAAATATATATTATATATTTTTATAT AAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(303): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATATTATATTATATA TAATATATTATATATATTATATTATATATAATATATTATATATATTATAT TATATATAATATATTATATATATTATAATATATATAATATATTATATATA TTATAATATATATAATATATTATATATATTATATTATATATAATATATTA TATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	31	0.0323	310	c.-50 others(321): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATATTATAATATATATAATATATTATATATAT TATAATATATATAATATATTATATATAATATAATATATATAATATATTAT ATATAATATAATATATATAATATATTATATATAATATAATATATATAATA TATTATATATAATATAATATATATAAATATATTTTTATATATAATAATTA TATTATATATAATATATTTTTATATAAATATATATTATATATTTTTATAT AAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(303): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATATTATATTATATA TAATATATTATATATATTATATTATATATAATATATTATATATATTATAT TATATATAATATATTATATATATTATATTATATATAATATATTATATATA TTATAATATATATAATATATTATATATATTATATTATATATAATATATTA TATATAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	31	0.0323	310	c.-50 others(321): Show c.-5036_-5035insTATATTATATATAATATATTATATATAATATAAT ATATATAATATATTATATATATTATAATATATATAATATATTATATATAA TATAATATATATAATATATTATATATAATATAATATATATAATATATTAT ATATAATATAATATATATAATATATTATATATAATATAATATATATAATA TATTATATATAATATAATATATATAAATATATTTTTATATATAATAATTA TATTATATATAATATATTTTTATATAAATATATATTATATATTTTTATAT AAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(303): Show TTTATATATAATATATAATATATATTTATATAAAAATATATAATATATAT TTATATAAAAATATATTATATATAATATAATTATTATATATAAAAATATA TTTATATATATTATATTATATATAATATATTATATATATTATATTATATA TAATATATTATATATATTATATTATATATAATATATTATATATATTATAT TATATATAATATATTATATATATTATATTATATATAATATATTATATATA TTATAATATATATAATATATTATATATATTATATTATATATAATATATTA TATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18951.hp1 NA18998.hp1 others(2): Show NA18945.hp1 NA18951.hp1 NA18998.hp1 NA19063.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	5	35	0.1429	310	c.-50 others(321): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATATTATAATATATATAATATATTATATATAA TATAATATATATAATATATTATATATAATATAATATATATAATATATTAT ATATAATATAATATATATAATATATTATATATAATATAATATATATAATA TATTATATATAATATAATATATATAAATATATTTTTATATATAATAATTA TATTATATATAATATATTTTTATATAAATATATATTATATATTTTTATAT AAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNPLA7_chr9_137454952_137555402	137517968	T T	TCACTCCA others(303): Show TCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCCAC TCACTCACTCGACTCTGTCCACTCCATCCCCCACTCACTCACTCCACTCT GTCCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCATCCCCC ACTCACGCACTCACTCCACTCTGTCCACTCCATCCCCCACTCACTCACTC CACTCTGCTCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCA TCCCTCATTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTGAC TCCACTCTGTC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0030 a0030	a0030c0033 a0030c0033	a0030c0033t0001 a0030c0033t0001	a0030c0033t0001g0077 a0030c0033t0001g0077	1	97	0.0103	310	c.108 others(329): Show c.1084+1948_1084+1949insGACAGAGTGGAGTCAGTGAGTGGGGG ATGGAGTGAGCAGAGTGGAGTGAGTGAATGAGGGATGGAGTGGACAGAGT GGAGTGAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGAGTGGG GGATGGAGTGGACAGAGTGGAGTGAGTGCGTGAGTGGGGGATGGAGTGGA CAGAGTGGAGTGAGTGAGTGGGGGATGGAGTGGACAGAGTGGAGTGAGTG AGTGGGGGATGGAGTGGACAGAGTCGAGTGAGTGAGTGGGGGATGGAGTG AGCAGAGTGGAGTGAGTGAGTGGGGGATGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
POGZ_chr1_151397724_151464494	151450812	T T	TCCTCAAA others(303): Show TCCTCAAAAATCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02280.hp2 others(4): Show HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02976.hp1 HG03195.hp2 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0007 a0001c0002t0001 a0001c0002t0007	a0001c0002t0001g0003 a0001c0002t0001g0190 a0001c0002t0001g0191 others(3): Show a0001c0002t0001g0003 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0007g0079	7	317	0.0221	310	c.-2+ others(325): Show c.-2+8339_-2+8340insCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGCCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAGATTTTTGAGG	POGZ	ENSG00000143442.24	transcript	ENST00000271715.7	protein_coding	1/18			chr1	TogoVar
POGZ_chr1_151397724_151464494	151450812	T T	TCCTCAAA others(303): Show TCCTCAAAAATCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACTGCGCCCGG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0189 a0001c0002t0001g0189	1	311	0.0032	310	c.-2+ others(325): Show c.-2+8339_-2+8340insCCGGGCGCAGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGCCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAGATTTTTGAGG	POGZ	ENSG00000143442.24	transcript	ENST00000271715.7	protein_coding	1/18			chr1	TogoVar
POLG_chr15_89311320_89339824	89325045	T T	TGAGTGAG others(303): Show TGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTG AGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAG AGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAG TGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAG TGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTG AGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGTG AGTGAGTGAGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0014 a0014	a0014c0030 a0014c0030	a0014c0030t0001 a0014c0030t0001	a0014c0030t0001g0159 a0014c0030t0001g0159	1	391	0.0026	310	c.194 others(327): Show c.1949+404_1949+405insTCTCACTCACTCACTCTCTCTCACTCAC TCACTCACTCTCTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTC ACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTCAC TCTCTCTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCAC TCACTCTCTCACTCACTCTCTCACTCACTCACTCTCTCTCACTCACTCAC TCACTCTCTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTC ACTCACTCACTCACTCACTCTCTCACTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PPARA_chr22_46145526_46248755	46227138	A A	AATGTGCT others(303): Show AATGTGCTTCATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0122 a0001c0001t0056g0122	1	171	0.0058	310	c.712 others(327): Show c.712-4638_712-4637insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC TAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGATGTGCTTCATATTTT	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPEF2_chr4_75854867_75907452	75861614	G G	GTTTTTTT others(303): Show GTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCAGTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	6	0.1667	310	c.200 others(327): Show c.2009-695_2009-694insAAAAACTGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	16/16			chr4	TogoVar
PPHLN1_chr12_42321167_42447181	42405603	T T	TAAAAAGA others(303): Show TAAAAAGAAAACCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03041.hp2 HG03471.hp1 HG02717.hp1 HG03041.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0116 a0001c0001t0006g0221 a0001c0001t0006g0233 a0001c0001t0006g0116 a0001c0001t0006g0221 a0001c0001t0006g0233	3	374	0.0080	310	c.909 others(327): Show c.909+6623_909+6624insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAGAAAACCAT	PPHLN1	ENSG00000134283.18	transcript	ENST00000358314.12	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPM1L_chr3_160751231_161083902	160945043	T T	TATTATAT others(303): Show TATTATATATAACTATATATAACATGTTATATATAACTATATATAACATG TTATATATAACTATATATAACATGTTATATATAACTATATATAACATGTT ATATATAACTATATATAACATGTTATATATAACTATATATAACATGTTAT ATATAACTATATATAACATGTTATATATAACTATATATAACATGTTATAT ATAACTATATATAACATGTTATATATAACTATATATAACATGTTATATAT AACTATATATAACATGTTATATATAACTATATATAACATGTTATATATAA CTATATATAAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02004.hp2 HG01346.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0040 a0001c0001t0002g0041	2	196	0.0102	310	c.400 others(329): Show c.400-16691_400-16690insTATATATAACTATATATAACATGTTA TATATAACTATATATAACATGTTATATATAACTATATATAACATGTTATA TATAACTATATATAACATGTTATATATAACTATATATAACATGTTATATA TAACTATATATAACATGTTATATATAACTATATATAACATGTTATATATA ACTATATATAACATGTTATATATAACTATATATAACATGTTATATATAAC TATATATAACATGTTATATATAACTATATATAACATGTTATATATAACTA TATATAACATGTTATATATAACTATATATAACAT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PRKCZ_chr1_2045411_2190395	2122464	G G	GTGGTGGG others(303): Show GTGGTGGGAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAG GATCATGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCACGGCTATAG TTGGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTATTTAGGGTCAC GGCTGTAGTTAGCGTCATGGTGGTGGTTAGGGTCATGGTGGTAGTTAGGG TCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGT AGTTAGCGTCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0128 a0001c0003t0001g0128	1	90	0.0111	310	c.335 others(329): Show c.335-12795_335-12794insTGGGAGTTAGGGTCACGGTGGTAGTT AGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGCGTCATGGTGGT AGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCATGG TGGTAGTTATTTAGGGTCACGGCTGTAGTTAGCGTCATGGTGGTGGTTAG GGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAG TTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTG GTAGTTAGGGTCATGGTGGTAGTTAGCGTCATGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(303): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	92	0.0109	310	c.-51 others(327): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTTTTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PSMF1_chr20_1113602_1177246	1149837	A A	ACCAGCCT others(303): Show ACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATG TGGTGGCGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGG ATTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCAC TGTACTCCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCT GGATGTGGTGGCGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTG GGAGGATTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCAC ACCACTGTACT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0238 a0002c0002t0002g0238	1	306	0.0033	310	c.552 others(329): Show c.552-13083_552-13082insCGTGACCCTGGAGTCCCAACTACTTG AGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTGGAGGTTGTGGT GAGCCATGATCACACCACTGTACTCCAGCCTGGGCAACATGGTGAAACTC TGTCTCTATAAATTAGCTGGATGTGGTGGCGTGACCCTGGAGTCCCAACT ACTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTGGAGGTT GTGGTGAGCCATGATCACACCACTGTACTCCAGCCTGGGCAACATGGTGA AACTCTGTCTCTATAAATTAGCTGGATGTGGTGG	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1149837	A A	ACCAGCCT others(303): Show ACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATG TGGTGGCGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGG ATTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCAC TGTACTCCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCT GGATGTGGTGGTGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTG GGAGGATTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCAC ACCACTGTACT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04115.hp2 HG02735.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0133 a0001c0001t0003g0060 a0001c0001t0003g0133	2	307	0.0065	310	c.552 others(329): Show c.552-12992_552-12991insCACTGTACTCCAGCCTGGGCAACATG GTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGCGTGACCCTGGA GTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG GTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACTCCAGCCTGGGCA ACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGTGTGACC CTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCC AGGAGGTGGAGGTTGTGGTGAGCCATGATCACAC	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1149893	C C	CGTGACCC others(303): Show CGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCT TGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACT CCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGT GGTGGTGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGA TTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACT GTACTCCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTG GATGTGGTGGT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02080.hp2 HG03710.hp2 HG01516.hp1 HG02080.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0058 a0001c0001t0003 a0001c0001t0058	a0001c0001t0003g0134 a0001c0001t0003g0138 a0001c0001t0058g0140 a0001c0001t0003g0134 a0001c0001t0003g0138 a0001c0001t0058g0140	3	187	0.0160	310	c.552 others(329): Show c.552-12992_552-12991insCACTGTACTCCAGCCTGGGCAACATG GTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGTGTGACCCTGGA GTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG GTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACTCCAGCCTGGGCA ACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGTGTGACC CTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCC AGGAGGTGGAGGTTGTGGTGAGCCATGATCACAC	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1150048	T T	TGTGACCC others(303): Show TGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCT TGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACT CCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGT GGTGGCGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGA TTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGATCACACCACT GTACTCCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTAGCTG GATGTGGTGGC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	284	0.0035	310	c.552 others(329): Show c.552-12992_552-12991insCACTGTACTCCAGCCTGGGCAACATG GTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGCGTGACCCTGGA GTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG GTGGAGGTTGTGGTGAGCCATGATCACACCACTGTACTCCAGCCTGGGCA ACATGGTGAAACTCTGTCTCTATAAATTAGCTGGATGTGGTGGCGTGACC CTGGAGTCCCAACTACTTGAGAGGCTGAGGTGGGAGGATTGCTTGAGCCC AGGAGGTGGAGGTTGTGGTGAGCCATGATCACAC	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPRM_chr18_7562316_8411856	7692354	T T	TGGAGGAT others(303): Show TGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGTGGGAGGATGGCTAGA TCCCAGGAGGTTAAGGAGGTGGGAGGATGGCTAGATCCCAGGAGGTTAAG GAGGTGGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGTGGAGGATGGC TAGATCCCAGGAGGTTAAGGAGGTGGGAGGATGGCTAGATCCCAGGAGGT TAAGGAGGTGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGTGGAGGAT GGCTAGATCCCAGGAGGTTAAGGAGGTGGAGGATGGCTAGATCCCAGGAG GTTAAGGAGGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02886.hp1 HG03486.hp1 HG02258.hp2 HG02886.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0002c0009 a0001c0003 a0001c0005 a0002c0009	a0001c0003t0001 a0001c0005t0004 a0002c0009t0001 a0001c0003t0001 a0001c0005t0004 a0002c0009t0001	a0001c0003t0001g0018 a0001c0005t0004g0068 a0002c0009t0001g0067 a0001c0003t0001g0018 a0001c0005t0004g0068 a0002c0009t0001g0067	3	80	0.0375	310	c.74- others(327): Show c.74-81759_74-81758insGAGGATGGCTAGATCCCAGGAGGTTAAG GAGGTGGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGTGGGAGGATGG CTAGATCCCAGGAGGTTAAGGAGGTGGAGGATGGCTAGATCCCAGGAGGT TAAGGAGGTGGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGTGGAGGA TGGCTAGATCCCAGGAGGTTAAGGAGGTGGAGGATGGCTAGATCCCAGGA GGTTAAGGAGGTGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGCGGAG GATGGCTAGATCCCAGGAGGTTAAGGAGGTGG	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB11FIP3_chr16_420649_528011	492487	T T	TTCCCGGG others(303): Show TTCCCGGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGACCCGAGG CCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCG GGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCA GAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTC CCGGGGAGACCCGAGGCCGTCCAGGGCCCTCCCGGGAGACCCGAGGCCGC CCAGAGCCCTC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	192	0.0052	310	c.126 others(329): Show c.1265+3487_1265+3488insTCCCGGGGAGACCCGAGGCCGTCCAG AGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCC GAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCT CCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGC CCAGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGGGC CCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RAB1A_chr2_65081854_65135106	65106651	C C	CAAAAATC others(303): Show CAAAAATCTTCTAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTAGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGTTAGCCGGGCGT AGTGGCGGGCGCCTGTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0256 a0001c0001t0003g0256	1	157	0.0064	310	c.24- others(325): Show c.24-1846_24-1845insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTAACAGGCGCCCGCCACTACGCCCGGCTAACTTTTCG TATTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTTGTTTAGAAGATTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RAB1A_chr2_65081854_65135106	65106651	C C	CAAAAATC others(303): Show CAAAAATCTTCTAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGTTAGCCGGGCGT AGTGGCGGGCGCCTGTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	157	0.0064	310	c.24- others(325): Show c.24-1846_24-1845insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTAACAGGCGCCCGCCACTACGCCCGGCTAACTTTTCG TATTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTTGTTTAGAAGATTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RAB1A_chr2_65081854_65135106	65106651	C C	CAAAAATC others(303): Show CAAAAATCTTCTAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCAAGGTGAAACCCCGTCTCTACTAAAAATACGAAAAGTTAGCCGGGCGT AGTGGCGGGCGCCTGTTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02148.hp2 HG02622.hp1 others(4): Show HG02145.hp1 HG02148.hp2 HG02622.hp1 HG02723.hp2 HG04204.hp1 NA18970.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0145 a0001c0001t0001g0146 others(4): Show a0001c0001t0001g0118 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0249 a0001c0001t0001g0250	7	163	0.0429	310	c.24- others(325): Show c.24-1846_24-1845insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTAACAGGCGCCCGCCACTACGCCCGGCTAACTTTTCG TATTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTTGTTTAGAAGATTTTT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	1/5			chr2	TogoVar
RABL3_chr3_120679938_120747516	120706613	A A	ACAATTGC others(303): Show ACAATTGCTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACC	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0263 a0001c0001t0034g0263	1	314	0.0032	310	c.269 others(325): Show c.269-500_269-499insGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGAATAGCAATTG	RABL3	ENSG00000144840.10	transcript	ENST00000273375.8	protein_coding	3/7			chr3	TogoVar
RALGAPA2_chr20_20384530_20717644	20687481	T T	TAAAAATG others(303): Show TAAAAATGTGGCAGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0037 a0001c0007t0037	a0001c0007t0037g0085 a0001c0007t0037g0085	1	119	0.0084	310	c.107 others(327): Show c.107-6681_107-6680insTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCCACTGCCACATTTTT	RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	1/39			chr20	TogoVar
RASAL2_chr1_178089104_178483850	178428464	T T	TGATTTTA others(303): Show TGATTTTAGCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	138	0.0072	310	c.674 others(327): Show c.674+7857_674+7858insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCGATTTTAGCTTTT	RASAL2	ENSG00000075391.18	transcript	ENST00000367649.8	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAVER1_chr19_10311212_10338529	10337272	C C	CTGGGTGT others(303): Show CTGGGTGTGGTAGTACACACCTGTAGTCCCAGCTACTCAGCAGGCTGAGG CAGGAGAATCTCTTGAACTTGGGAGGTGGAGGTTGCAGTGAGCAAGATCA TGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCCAAAAA AAAAAAAAGAAGAAGAAGAAGAAAAGGCCAGGTGCAGTGGCTCACGCCTG TAATCCCAACACTTTAGGAGGCGGAGGCAGGCAGATCATGAGGTCAGAAG TTCGAGACCAGCTTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATA CAAAAATTAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	380	0.0026	310	c.-37 others(321): Show c.-3766_-3765insACTAATTTTTGTATTTTTAGTAGAGACAGGGTTT CACCATGTTGGTCAAGCTGGTCTCGAACTTCTGACCTCATGATCTGCCTG CCTCCGCCTCCTAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCTGG CCTTTTCTTCTTCTTCTTCTTTTTTTTTTTTTGGAGATGGAGTCTCACTC TGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGCTCACTGCAACCTCC ACCTCCCAAGTTCAAGAGATTCTCCTGCCTCAGCCTGCTGAGTAGCTGGG ACTACAGGTGTGTACTACCACACCCA	RAVER1	ENSG00000161847.15	transcript	ENST00000617231.5	protein_coding		3744		chr19	TogoVar

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