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
NFATC1_chr18_79390930_79534323	79494557	A A	GACCTGGT others(185): Show GACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGA CCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACC TGGTACCGCCAGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTG GTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0289 a0001c0010t0004g0289	1	173	0.0058	192	c.278 others(211): Show c.2782+7619_2782+7620insGACCTGGTACCGCCGGGGGAAGGCGA GAGCGGGCACACGCCCCCCATCGACCTGGTACCGCCGGGGGAAGGCGAGA GCGGGCACACGCCCCCCATCGACCTGGTACCGCCAGGGGAAGGCGAGAGC GGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGG GCACACGCCCCCCATG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9			chr18	TogoVar
NFATC1_chr18_79390930_79534323	79494557	A A	GACCTGGT others(185): Show GACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGA CCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACC TGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTG GTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG02630.hp2 others(2): Show HG01243.hp1 HG02258.hp2 HG02630.hp2 HG02897.hp2 NA21309.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0028 a0001c0010t0029 a0001c0010t0005 a0001c0010t0028 a0001c0010t0029	a0001c0010t0005g0126 a0001c0010t0028g0004 a0001c0010t0028g0079 others(2): Show a0001c0010t0005g0126 a0001c0010t0028g0004 a0001c0010t0028g0079 a0001c0010t0029g0081 a0001c0010t0029g0125	5	177	0.0282	192	c.278 others(211): Show c.2782+7428_2782+7619dupGACCTGGTACCGCCGGGGGAAGGCGA GAGCGGGCACACGCCCCCCATCGACCTGGTACCGCCGGGGGAAGGCGAGA GCGGGCACACGCCCCCCATCGACCTGGTACCGCCGGGGGAAGGCGAGAGC GGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGG GCACACGCCCCCCATG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9			chr18	TogoVar
NFILZ_chr19_8625633_8686151	8661104	T T	TTCCTTCC others(185): Show TTCCTTCCTTCCTTCCCTCCCTTCCTTCCCCCTCCCTCCCTTCCTTCCCC CTCCCTCCCTTCCTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCCCTC CCTCCCTTCCTTCCCCCTCCCTCCCTTCCTTCCCCCTCCCTCCCTTCCTC CTTCCTTCCTTCCTCCTTCCTTCCTTCCTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00741.hp1 HG01884.hp1 others(13): Show HG00621.hp1 HG00741.hp1 HG01884.hp1 HG02300.hp2 HG02809.hp2 HG03453.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18955.hp1 NA18962.hp1 NA18995.hp1 NA19009.hp2 NA19070.hp1 NA19085.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 others(11): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0019 a0001c0001t0021 a0001c0001t0029 a0001c0001t0051 a0001c0001t0062 a0001c0001t0155 a0002c0002t0008 a0002c0002t0037 a0003c0003t0067 a0003c0003t0071 a0003c0003t0082	a0001c0001t0005g0310 a0001c0001t0009g0199 a0001c0001t0010g0326 others(13): Show a0001c0001t0005g0310 a0001c0001t0009g0199 a0001c0001t0010g0326 a0001c0001t0019g0356 a0001c0001t0021g0134 a0001c0001t0021g0138 a0001c0001t0029g0327 a0001c0001t0051g0102 a0001c0001t0062g0120 a0001c0001t0155g0320 a0002c0002t0008g0319 a0002c0002t0008g0346 a0002c0002t0037g0178 a0003c0003t0067g0318 a0003c0003t0071g0330 a0003c0003t0082g0272	16	215	0.0744	192	c.-16 others(213): Show c.-163-13432_-163-13431insCTCCCTTCCTTCCCCCTCCCTCCC TTCCTTCCCCCTCCCTCCCTTCCTCCTTCCTTCCTTCCTTCCCTCCCTTC CTTCCCCCTCCCTCCCTTCCTTCCCCCTCCCTCCCTTCCTTCCCCCTCCC TCCCTTCCTCCTTCCTTCCTTCCTCCTTCCTTCCTTCCTCCTTCCTTCCT TCCTCCTTCCTTCCTTCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232993155	A A	ATATATAT others(185): Show ATATATATATATTATATATAAATAAATATATATATTTATTTATATATATT ATATATATAAATAAATATATATATTTATTTATATATTATATATATAAATA AATATATATATTTATTTATATATATATATATAAATAAATATATATATTTA TTTATATATATATTATATATATAAATAAATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0015 a0001c0002t0028g0015	1	296	0.0034	192	c.-74 others(211): Show c.-74-18192_-74-18191insAATAAATATATATATTTATTTATATA TATAATATATATATAAATAAATATATATATTTATTTATATATATATATAT AAATAAATATATATATTTATTTATATATATAATATATAAATAAATATATA TATTTATTTATATATATAATATATATAAATAAATATATATATTTATTTAT ATATAATATATATATA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NKAIN3_chr8_62243854_62989904	62870214	A A	ATATATCT others(185): Show ATATATCTATATCTATATATAGATATCTATAGATATCTATATCTATATAT AGATATCTATAGATATCTATATCTATATATAGATATCTATAGATATCTAT ATCTATATATAGATATCTATAGATATCTATATCTATATATAGATATCTAT AGATATCTATATCTATATCTATATATAGATATCTATAGATATC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0100 a0001c0001t0089g0100	1	78	0.0128	192	c.472 others(211): Show c.472-48198_472-48197insCTATATATAGATATCTATAGATATCT ATATCTATATATAGATATCTATAGATATCTATATCTATATATAGATATCT ATAGATATCTATATCTATATATAGATATCTATAGATATCTATATCTATAT CTATATATAGATATCTATAGATATCTATATCTATATCTATATATAGATAT CTATAGATATCTATAT	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NLRP8_chr19_55942832_55993629	55993492	C C	CCTCCCCC others(185): Show CCTCCCCCCTCCCTCCCCCCCTCCCTCCCCCCTCCCCCCCCCCCTCCCCC CCTCCCTCCCCCTCCCCCCTCCTCCCCCCCCTCCCTCCCCTCCCATCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCTCCCCTCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0007 a0006c0020t0007	a0006c0020t0007g0246 a0006c0020t0007g0246	1	332	0.0030	192	c.55 others(203): Show c.5579_*5580insCTCCCCCCTCCCTCCCCCCCTCCCTCCCCCCTCC CCCCCCCCCTCCCCCCCTCCCTCCCCCTCCCCCCTCCTCCCCCCCCTCCC TCCCCTCCCATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCTC CCCTCCAT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4864		chr19	TogoVar
NMBR_chr6_142069484_142152122	142125421	C C	CCATATAC others(185): Show CCATATACACATATACATGTGCATGCATATACACATATACATGTGCATGC ATATACACATATACATGTGCATGCATATACACATATACATGTGCATGCAT ATACACATATACATGTGCATGCATATACACATATACATGTGCATGCATAT ACACATATACATGTGCATGCATATACACATATACATGTGCATG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0033 a0001c0001t0009g0033	1	219	0.0046	192	c.-66 others(213): Show c.-664+21622_-664+21623insCATGCACATGTATATGTGTATATG CATGCACATGTATATGTGTATATGCATGCACATGTATATGTGTATATGCA TGCACATGTATATGTGTATATGCATGCACATGTATATGTGTATATGCATG CACATGTATATGTGTATATGCATGCACATGTATATGTGTATATGCATGCA CATGTATATGTGTATATG	NMBR	ENSG00000135577.5	transcript	ENST00000258042.2	protein_coding	1/3			chr6	TogoVar
NPBWR2_chr20_64098802_64112565	64105698	G G	GGTGGGGG others(185): Show GGTGGGGGTGATGGTGGGCGTGATGGTGGGGGTGATGGGGGTGGGCATGA TGATGGGCGTGATGATAGGGGTGATGGTGGGGGTGATGGTGGGCGTGATG ATGGGGGTGGGGGGGGTGGGCCTGATGGGGGTGTGGGCATGATGATGATG GGCGTGATGATGATGGGGGGTGATGATGGGCATGATGATGGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0096 a0001c0002t0045g0096	1	334	0.0030	192	c.13 others(201): Show c.131_*132insGCCCATCATCATGCCCATCATCACCCCCCATCATCA TCACGCCCATCATCATCATGCCCACACCCCCATCAGGCCCACCCCCCCCA CCCCCATCATCACGCCCACCATCACCCCCACCATCACCCCTATCATCACG CCCATCATCATGCCCACCCCCATCACCCCCACCATCACGCCCACCATCAC CCCCAC	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	131		chr20	TogoVar
NUP93_chr16_56725129_56855286	56808281	T T	TATAGTTA others(185): Show TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATAAAATATATAGTTATATAACTATATAAAATATA TAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATATA TAGTTATATAACTATATAAAATATAGTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	365	0.0027	192	c.489 others(209): Show c.489+2652_489+2653insGTTATATAACTATATAAAATATATAGTT ATATAACTATATAAAATATATAGTTATATAACTATAAAATATATAGTTAT ATAACTATATAAAATATATAGTTATATAACTATATAAAATATATAGTTAT ATAACTATATAAAATATATAGTTATATAACTATATAAAATATAGTTATAT AACTATATAAAATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808348	A A	ATAAAATA others(185): Show ATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTAT ATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTAT ATAAAATATAGTTATATAACTATATAAAATATAGTTATATAACTATATAA AATATATAGTTATATAACTATATAAAATATATAGTTATATAAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0086 a0001c0002t0037g0086	1	374	0.0027	192	c.489 others(209): Show c.489+2718_489+2719insAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATAAAATATAGTTATATAACTATATAAAATA TAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATATA TAGTTATATAACTA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808348	A A	ATAAAATA others(185): Show ATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTAT ATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTAT ATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTATAT AAAATATAGTTATATAACTATATAAAATATATAGTTATATAAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02698.hp2 HG01358.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0316 a0001c0001t0001g0318	2	375	0.0053	192	c.489 others(209): Show c.489+2718_489+2719insAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATAAAATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATAGTTATATAACTATATAAAATATA TAGTTATATAACTA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808373	A A	ATAAAATA others(185): Show ATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTAT ATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTAT ATAAAATATAGTTATATAACTATATAAAATATAGTTATATAACTATATAA AATATATAGTTATATAACTATATAAAATATATAGTTATATAAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA20129.hp2 HG02965.hp1 NA20129.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0020 a0001c0002 a0006c0020	a0001c0002t0001 a0006c0020t0001 a0001c0002t0001 a0006c0020t0001	a0001c0002t0001g0068 a0006c0020t0001g0065 a0001c0002t0001g0068 a0006c0020t0001g0065	2	369	0.0054	192	c.489 others(209): Show c.489+2743_489+2744insAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATAAAATATAGTTATATAACTATATAAAATA TAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATATA TAGTTATATAACTA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808381	T T	TATATAGT others(185): Show TATATAGTTATATAACTATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATAAAATATA TAGTTATATAACTATATAAAATATAGTTATATAACTATATAAAATATATA GTTATATAACTATATAAAATATATAGTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	342	0.0029	192	c.489 others(209): Show c.489+2759_489+2760insATAACTATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTATA TAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTATA TAAAATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808381	T T	TATATAGT others(185): Show TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATAGTTATATAACTATATAAAATATAGTTATATAACTATATAAAATATA TAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATATA TAGTTATATAACTATATAAAATATAGTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01993.hp2 HG01123.hp1 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0093 a0001c0002t0001g0076 a0001c0002t0001g0093	2	343	0.0058	192	c.489 others(209): Show c.489+2759_489+2760insATAACTATATAAAATATATAGTTATATA ACTATATAAAATATAGTTATATAACTATATAAAATATAGTTATATAACTA TATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTA TATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTATA TAAAATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808448	A A	ATATAAAA others(185): Show ATATAAAATATAGTTATATAACTATATAAAATATAGTTATATAACTATAT AAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTATAT AAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG02015.hp2 others(6): Show HG00544.hp1 HG00609.hp2 HG02015.hp2 HG02129.hp1 HG02129.hp2 HG04184.hp1 NA18949.hp1 NA18965.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0059 a0001c0002t0001g0060 others(6): Show a0001c0002t0001g0046 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0079 a0001c0002t0001g0087 a0001c0002t0001g0097 a0001c0002t0001g0105 a0001c0002t0001g0130 a0001c0002t0001g0344	9	280	0.0321	192	c.489 others(209): Show c.489+2827_489+2828insGTTATATAACTATATAAAATATAGTTAT ATAACTATATAAAATATATAGTTATATAACTATATAAAATATATAGTTAT ATAACTATATAAAATATATAGTTATATAACTATATAAAATATAGTTATAT AACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGT AACTATAAAATATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808448	A A	ATATAAAA others(185): Show ATATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTAT ATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTATAT AAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTATATAA AATATATAGTTATATAACTATATAAAATATATAGTTATGTAAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG02622.hp1 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0070 a0001c0002t0001g0071	2	273	0.0073	192	c.489 others(209): Show c.489+2834_489+2835insATAACTATATAAAATATAGTTATATAAC TATATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTA TATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTATA TAAAATATATAGTTATATAACTATATAAAATATATAGTTATGTAACTATA AAATATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NXN_chr17_794310_984776	841547	C C	CCGCGAGC others(185): Show CCGCGAGCAGGTCCTCCCGACCACGGTGCATCTCACACGGGCGAGCAGGT CCTCCCGACCACGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCA CGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGAGCATCTCA CGCCGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03516.hp2 NA20300.hp2 HG02630.hp1 HG03516.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0069 a0001c0001t0001g0201 a0001c0001t0001g0044 a0001c0001t0001g0069 a0001c0001t0001g0201	3	136	0.0221	192	c.361 others(211): Show c.361-15470_361-15469insCGTGTGAGATGCTCCGTGGTCAGGGG GGACCTGCTCGCCGGCGTGAGATGCTCCGTGGTCGGGAGGACCTGCTCGC GGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGAT GCTCCGTGGTCGGGAGGACCTGCTCGCCCGTGTGAGATGCACCGTGGTCG GGAGGACCTGCTCGCG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841591	A A	AGCAGGTC others(185): Show AGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCC CGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCG CATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCATGCC GGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG00735.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0191 a0001c0001t0003g0140 a0001c0001t0002g0191 a0001c0001t0003g0140	2	206	0.0097	192	c.361 others(211): Show c.361-15514_361-15513insCTGTGGGTGTGAGATGCGCCGTGGTC GGGGGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTG CTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGT GAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGT GGTCGGGGGGACCTGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841663	C C	CCACAGGC others(185): Show CCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGT CCACCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCAACCA CGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCA CACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	172	0.0058	192	c.361 others(211): Show c.361-15586_361-15585insCGTGTGAGATGCTCCGTGGTCAGGGG GGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGT GGGTGTGAGATGCGCCGTGGTTGGGGGGACCTGCTCGCCCGTGTGAGATG CTCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCG GGGGGACCTGCCTGTG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952186	G G	GGTCAGAC others(185): Show GGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTTGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGA ACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0045	1	234	0.0043	192	c.360 others(211): Show c.360+27132_360+27133insTCCAGCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCA ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTG ACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAA CCTTGGTCTGTCTGAC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952321	C C	CAGACCAA others(185): Show CAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGG GGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACG GTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGC AGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	187	0.0053	192	c.360 others(211): Show c.360+26997_360+26998insCTCTGACTCCAGCCCCCCCACAGTGT GACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAG CCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGT CTCTCTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGG GTTCCAACCTTGGTCT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952480	G G	GGACGGTC others(185): Show GGACGGTCACACTGTGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAAC CCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAG ACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGG CTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACA	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA19011.hp1 HG00735.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0049 a0001c0001t0002g0191 a0001c0001t0001g0049 a0001c0001t0002g0191	2	232	0.0086	192	c.360 others(211): Show c.360+26838_360+26839insTGTGGTACCTGCCGGGTTCCAACCTT GGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCC CCACAGTGTGACCGTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPRM1_chr6_154034240_154137356	154100188	C C	CATATATC others(185): Show CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACATATATCATAATATATATTATCATATTATGACATA TATCATAATATATAATCATATTATGACATATATCATAATATATATTATCA TATTATGACATATATCATAATATATATTATCATATTATGACAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp2 HG02572.hp2 others(3): Show HG01243.hp1 HG02280.hp2 HG02572.hp2 HG02965.hp2 HG02970.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0024 a0001c0001t0034 a0001c0001t0110 others(3): Show a0001c0001t0024 a0001c0001t0034 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0003c0003t0024	a0001c0001t0024g0163 a0001c0001t0034g0181 a0001c0001t0110g0011 others(3): Show a0001c0001t0024g0163 a0001c0001t0034g0181 a0001c0001t0110g0011 a0001c0001t0111g0180 a0001c0001t0112g0182 a0003c0003t0024g0240	6	235	0.0255	192	c.116 others(211): Show c.1164+8720_1164+8721insATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATCATATTATGACATATATCATAATATATAATCATATTATGACATAT ATCATAATATATATTATCATATTATGACATATATCATAATATATATTATC ATATTATGACATATAT	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OR2AJ1_chr1_247919889_247940339	247937031	G G	ACCACCAG others(185): Show ACCACCAGGTGGCGCCTGTTTATCATCTTCCGCACCTGCGCCCTGGGCTC ACTCGCTGGGGCTGCCGGAGGACGCGCTCCTTCAGGACCCGCTGCGGCCA CCAGGTGGAGCCTCTTTATCATCTTCCGCACCCGCGCCCTGGGCTCACTC GCTGGGGCTGCCGGAGGACGCGCTCCTTCAGGACCCGCTGCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01346.hp1 HG01123.hp2 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	269	0.0074	192	c.22 others(203): Show c.2275_*2276insACCACCAGGTGGCGCCTGTTTATCATCTTCCGCA CCTGCGCCCTGGGCTCACTCGCTGGGGCTGCCGGAGGACGCGCTCCTTCA GGACCCGCTGCGGCCACCAGGTGGAGCCTCTTTATCATCTTCCGCACCCG CGCCCTGGGCTCACTCGCTGGGGCTGCCGGAGGACGCGCTCCTTCAGGAC CCGCTGCG	OR2AJ1	ENSG00000177275.4	transcript	ENST00000318244.4	protein_coding		1692		chr1	TogoVar
OR2AJ1_chr1_247919889_247940339	247937048	G G	GTTTATCA others(185): Show GTTTATCATCTTCCGCACCTGCGCCCTGGGCTCACTCGCTGGGGCTGCCG GAGGACGCGCTCCTTCAGGACCCGCTGCGGCCACCAGGTGGAGCCTCTTT ATCATCTTCCGCACCCGCGCCCTGGGCTCACTCGCTGGGGCTGCCGGAGG ACGCGCTCCTTCAGGACCCGCTGCGGCCACCAGGTGGAGCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	430	0.0023	192	c.22 others(203): Show c.2293_*2294insTTTATCATCTTCCGCACCTGCGCCCTGGGCTCAC TCGCTGGGGCTGCCGGAGGACGCGCTCCTTCAGGACCCGCTGCGGCCACC AGGTGGAGCCTCTTTATCATCTTCCGCACCCGCGCCCTGGGCTCACTCGC TGGGGCTGCCGGAGGACGCGCTCCTTCAGGACCCGCTGCGGCCACCAGGT GGAGCCTC	OR2AJ1	ENSG00000177275.4	transcript	ENST00000318244.4	protein_coding		1710		chr1	TogoVar
OR2AJ1_chr1_247919889_247940339	247937067	T T	TGCGCCCT others(185): Show TGCGCCCTGGGCTCACTCGCTGGGGCTGCCGGAGGACGCGCTCCTTCAGG ACCCGCTGCGGCCACCAGGTGGAGCCTCTTTATCATCTTCCGCACCCGCG CCCTGGGCTCACTCGCTGGGGCTGCCGGAGGACGCGCTCCTTCAGGACCC GCTGCGGCCACCAGGTGGAGCCTCTTTATCATCTTCCGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18951.hp1 NA18964.hp2 others(6): Show NA18947.hp2 NA18951.hp1 NA18964.hp2 NA18970.hp1 NA18983.hp1 NA18983.hp2 NA18994.hp1 NA19004.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0002g0014 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0002g0014 a0001c0001t0002g0019 a0001c0001t0002g0046	9	286	0.0315	192	c.23 others(203): Show c.2312_*2313insGCGCCCTGGGCTCACTCGCTGGGGCTGCCGGAGG ACGCGCTCCTTCAGGACCCGCTGCGGCCACCAGGTGGAGCCTCTTTATCA TCTTCCGCACCCGCGCCCTGGGCTCACTCGCTGGGGCTGCCGGAGGACGC GCTCCTTCAGGACCCGCTGCGGCCACCAGGTGGAGCCTCTTTATCATCTT CCGCACCC	OR2AJ1	ENSG00000177275.4	transcript	ENST00000318244.4	protein_coding		1729		chr1	TogoVar
OR2AJ1_chr1_247919889_247940339	247937074	T T	TGGGCTCA others(185): Show TGGGCTCACTCGCTGGGGCTGCCGGAGGACGCGCTCCTTCAGGACCCGCT GCGGCCACCAGGTGGAGCCTCTTTATCATCTTCCGCACCCGCGCCCTGGG CTCACTCGCTGGGGCTGCCGGAGGACGCGCTCCTTCAGGACCCGCTGCGG CCACCAGGTGGAGCCTCTTTATCATCTTCCGCACCCGAGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	428	0.0023	192	c.23 others(203): Show c.2319_*2320insGGGCTCACTCGCTGGGGCTGCCGGAGGACGCGCT CCTTCAGGACCCGCTGCGGCCACCAGGTGGAGCCTCTTTATCATCTTCCG CACCCGCGCCCTGGGCTCACTCGCTGGGGCTGCCGGAGGACGCGCTCCTT CAGGACCCGCTGCGGCCACCAGGTGGAGCCTCTTTATCATCTTCCGCACC CGAGCCCC	OR2AJ1	ENSG00000177275.4	transcript	ENST00000318244.4	protein_coding		1736		chr1	TogoVar
OR2T12_chr1_248285139_248308424	248306505	C C	CCCTGAGG others(185): Show CCCTGAGGACAGGAGCCGCCCTGAGGACAGGAGCCGCCTGAGGACTGGAG CCGCCCTGAGGACTGGAGCCGCCCTGAGGACTGGAGCCCCCTGAGGACTG GAGCCGCCTGAGGACTGGAGCCGCCCTGAGGACAGGAGCCGCCTGAGGAC TGGAACCCCCTGAGGACTGGAGCCGCCCTGAGGACAGGAGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0011 a0005c0004t0011	a0005c0004t0011g0017 a0005c0004t0011g0017	1	383	0.0026	192	c.-33 others(203): Show c.-3350_-3349insCGGCTCCTGTCCTCAGGGCGGCTCCAGTCCTCAG GGGGTTCCAGTCCTCAGGCGGCTCCTGTCCTCAGGGCGGCTCCAGTCCTC AGGCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGGGCGGCTCCAGTCC TCAGGGCGGCTCCAGTCCTCAGGCGGCTCCTGTCCTCAGGGCGGCTCCTG TCCTCAGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3082		chr1	TogoVar
OR4F17_chr19_102104_118156	107934	T T	TTATTATA others(185): Show TTATTATATAATATAATATATATTATATAATATATTTTATTATATAATAT AATATATATTATATAATATATTTTATTATATAATATATATTATATTATAT AATATAATATATATTAATATAAATATATATTATATTATATAATATAATAT ATATTATATAATATAATATATTTTATTATATAAATATATATTA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	40	0.0250	192	c.-55 others(207): Show c.-55+402_-55+403insATATAATATATTTTATTATATAATATAATA TATATTATATAATATATTTTATTATATAATATATATTATATTATATAATA TAATATATATTAATATAAATATATATTATATTATATAATATAATATATAT TATATAATATAATATATTTTATTATATAAATATATATTATATTATATAAT ATAATATATATT	OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
OR5AN1_chr11_59353895_59376714	59356682	A A	AGAGGGGA others(185): Show AGAGGGGAGGGGAGGGAAGGGAAAGGGAGGGAAGGGAAGGGGAGGGGACG GAAGGGAAAGGGAGGGGAGGGGAGGGAAGGGAAGGGGAGGGGAGGGGGGA GGGGAGGGGAGGGAAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGAGGGG GAGGGGAGGGGAGGGAAGGGAAGGGGAGGGGAGGGGGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0023 a0003c0005t0023	a0003c0005t0023g0025 a0003c0005t0023g0025	2	139	0.0144	192	c.-26 others(203): Show c.-2604_-2603insGAGGGGAGGGGAGGGAAGGGAAAGGGAGGGAAGG GAAGGGGAGGGGACGGAAGGGAAAGGGAGGGGAGGGGAGGGAAGGGAAGG GGAGGGGAGGGGGGAGGGGAGGGGAGGGAAGGGGAGGGGAGGGGGGAGGG GAGGGGAGGGAGGGGGAGGGGAGGGGAGGGAAGGGAAGGGGAGGGGAGGG GGGGAGGG	OR5AN1	ENSG00000176495.3	transcript	ENST00000641998.1	protein_coding		2212		chr11	TogoVar
OR8B8_chr11_124432445_124450696	124443032	A A	ATTTAGAC others(185): Show ATTTAGACAGGTTTCACCCTATTGATCTGGATGTTTAGGCAGGTTTCACC CTATTGATCTGGATGTTTAGACAGGTTTCACCCTATTGATCTGGATGTTT AGGCAGGTTTCACCCTATTGATCTGGATGTTTAGGCAGGTTTCACCCTAT TGATCTGGATGTTTAGGCAGGTTTCACCCTATTGATCTGGATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02280.hp1 others(10): Show HG01891.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02809.hp1 HG02818.hp1 HG02922.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0015 a0001c0001t0032 a0001c0001t0044 others(1): Show a0001c0001t0015 a0001c0001t0032 a0001c0001t0044 a0001c0003t0002	a0001c0001t0015g0016 a0001c0001t0032g0037 a0001c0001t0044g0058 others(1): Show a0001c0001t0015g0016 a0001c0001t0032g0037 a0001c0001t0044g0058 a0001c0003t0002g0014	13	198	0.0657	192	c.-15 others(211): Show c.-152-1410_-152-1409insCATCCAGATCAATAGGGTGAAACCTG CCTAAACATCCAGATCAATAGGGTGAAACCTGCCTAAACATCCAGATCAA TAGGGTGAAACCTGCCTAAACATCCAGATCAATAGGGTGAAACCTGTCTA AACATCCAGATCAATAGGGTGAAACCTGCCTAAACATCCAGATCAATAGG GTGAAACCTGTCTAAA	OR8B8	ENSG00000197125.3	transcript	ENST00000642064.1	protein_coding	1/2			chr11	TogoVar
P2RX5_chr17_3668227_3701155	3686476	G G	GGGGCCCC others(185): Show GGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGA GAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCC CGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTC CCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	304	0.0033	192	c.981 others(209): Show c.981+1535_981+1536insAGCTGTGTGTTCTCCTGTTCTCAGGCTG GGAGGGGGACGTTGGGAGGGTCCCTGGGGGTCCCGCTGTGCGTTCTCCTG TTCTGAGGCTGGGCGGGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGG CCCCGCTGTGTGTTCTCCTGTTCTCAGGCTGGGAGGGGGACGTTGGGAGG GTCCCTGGGGGCCC	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(185): Show GTGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATATGT GTGCATATATATACATATATATGTGTGCATATATATACATATATATGTGT GCATATATATACATATATATGTGTGCATATATATACATATATA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0121 a0002c0003t0005g0121	1	40	0.0250	192	c.196 others(213): Show c.1964+81246_1964+81437dupATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATATGT GTGCATATATATACATATATATGTGTGCATATATATACATATATATGTGT GCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PARD3_chr10_34104561_34820296	34605743	A A	ATATATAT others(185): Show ATATATATATCTCCTATATATATATATCTCCTATATATATATCTCCTATA TATATATATCTCCTATATATATATCTCCTATATATATATATCTCCTATAT ATATATCTCCTATATATATATATCTCCTATATATATATATCTCCTATATA TATATATATCCTATATATATATCTCCTATATATATATATCTCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0064 a0001c0004t0003g0064	1	64	0.0156	192	c.223 others(211): Show c.223-88585_223-88584insGGAGATATATATATATAGGAGATATA TATATAGGATATATATATATATAGGAGATATATATATATAGGAGATATAT ATATATAGGAGATATATATATAGGAGATATATATATATAGGAGATATATA TATAGGAGATATATATATATAGGAGATATATATATAGGAGATATATATAT ATAGGAGATATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARP16_chr15_65253099_65291883	65269176	T T	TTTTTTTC others(185): Show TTTTTTTCTTTCTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0039 a0001c0001t0008g0039	1	100	0.0100	192	c.312 others(209): Show c.312+1758_312+1759insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA GAAGAAAGAAAAAA	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding	2/5			chr15	TogoVar
PASD1_chrX_151558675_151681739	151562909	G G	GGGGGGGC others(185): Show GGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAGCTGGGG CGGGGGGCGGGGGGGGGCGGGGGGGGGCGGGGGGGCGGGGGGGGGCGGGG GGGGCGGGGGGGCGGGGGGGGGCGGGGGGGGGCGGGGGGGCGGGGGGGGG CGGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	81	0.0123	192	c.-95 others(201): Show c.-958_-957insGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGG GGGGCAGCTGGGGCGGGGGGCGGGGGGGGGCGGGGGGGGGCGGGGGGGCG GGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGGGCGGGGGGGGGCGGGG GGGCGGGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGGCGGG GGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		765		chrX	TogoVar
PAX5_chr9_36828269_37039268	36946045	C C	CTGCAGTG others(185): Show CTGCAGTGCTCCATCAGGAAGCGACTCCCTGAGGAGTGCTCCGTCAGGAT GCAGTGCTCCATCAGGAAGCGACTCCCTGAGGAGTGCTCTGTCAGGATGC AGTGCTCCATCAGGAAGCGACTCCCTGAGGAGTGCTCCGTCAGGATGCAG TGCTCCATCAGGAAGCGACTCCCTGAGGAGTGCTCTGTCAGGA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0014 a0001c0001t0019g0014	1	272	0.0037	192	c.780 others(211): Show c.780+20503_780+20504insTCCTGACAGAGCACTCCTCAGGGAGT CGCTTCCTGATGGAGCACTGCATCCTGACGGAGCACTCCTCAGGGAGTCG CTTCCTGATGGAGCACTGCATCCTGACAGAGCACTCCTCAGGGAGTCGCT TCCTGATGGAGCACTGCATCCTGACGGAGCACTCCTCAGGGAGTCGCTTC CTGATGGAGCACTGCA	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	6/9			chr9	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(185): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 NA19054.hp1 HG04115.hp1 NA19054.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	2	183	0.0109	192	c.-26 others(203): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PDXK_chr21_43714129_43767299	43741151	G G	GGCGGGGG others(185): Show GGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCG GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0112 a0001c0001t0101g0112	1	305	0.0033	192	c.143 others(207): Show c.143-506_143-505insGGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCG CGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741395	G G	GGGGGGCT others(185): Show GGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCG CGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGG GGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0289 a0001c0001t0053g0289	1	282	0.0035	192	c.143 others(207): Show c.143-267_143-266insCTCGCGGGGGGCTGGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCG GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741442	G G	GGGGGGGC others(185): Show GGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGCTGGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGGCTC GCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0069 a0001c0002t0003g0069	1	214	0.0047	192	c.143 others(207): Show c.143-193_143-192insCGGGGGGGCTCGCGGGGGGCTGGCGGGGGG CTGGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTC GCGGGGGGCTCG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PEX26_chr22_18072990_18110396	18106693	G G	GGAGAGCT others(185): Show GGAGAGCTGAATACGTAGTTCCAGTCGGAGTCTGAAGCCTGAGATCCAGG AGAGCTGAGGACATGGTTCCAGTCTGAATCTGAAGCCCGAGACCCAGGAG AGCTGATGGTGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAG CTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG03579.hp1 HG02145.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0162 a0001c0001t0083 a0001c0001t0162	a0001c0001t0083g0154 a0001c0001t0162g0155 a0001c0001t0083g0154 a0001c0001t0162g0155	2	255	0.0078	192	c.18 others(205): Show c.18618_*18619insGAGAGCTGAATACGTAGTTCCAGTCGGAGTCT GAAGCCTGAGATCCAGGAGAGCTGAGGACATGGTTCCAGTCTGAATCTGA AGCCCGAGACCCAGGAGAGCTGATGGTGTGGTTCCAGTCTGAGTCTGAAG CCTGAGACCCACGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCC TGAGACCCAC	PEX26	ENSG00000215193.14	transcript	ENST00000399744.8	protein_coding		1298		chr22	TogoVar
PEX26_chr22_18072990_18110396	18106693	G G	GGAGAGCT others(185): Show GGAGAGCTGAATACGTAGTTCCAGTCTGAGTCTGAAGCCTGAGTTCCAGG AGAGCTGAGGACATGGTTCCAGTCTGAATCTGAAGCCCGAGACCCAGGAG AGCTGATGGTGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCACGAGAG CTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCCTGAGACCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00544.hp1 others(138): Show HG00140.hp1 HG00408.hp1 HG00544.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02132.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp2 NA18939.hp1 NA18942.hp1 NA18944.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18972.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19076.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(42): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0046 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0105 a0001c0001t0106 a0001c0001t0129 a0001c0001t0134 a0001c0001t0151 a0001c0001t0163	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 others(75): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0004g0001 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0127 a0001c0001t0005g0004 a0001c0001t0005g0092 a0001c0001t0010g0001 a0001c0001t0010g0131 a0001c0001t0011g0001 a0001c0001t0012g0026 a0001c0001t0012g0027 a0001c0001t0012g0041 a0001c0001t0030g0001 a0001c0001t0031g0039 a0001c0001t0031g0129 a0001c0001t0032g0001 a0001c0001t0033g0011 a0001c0001t0035g0038 a0001c0001t0036g0001 a0001c0001t0046g0025 a0001c0001t0046g0115 a0001c0001t0054g0011 a0001c0001t0055g0001 a0001c0001t0056g0009 a0001c0001t0057g0009 a0001c0001t0058g0001 a0001c0001t0059g0001 a0001c0001t0060g0001 a0001c0001t0061g0001 a0001c0001t0062g0001 a0001c0001t0063g0001 a0001c0001t0064g0111 a0001c0001t0065g0001 a0001c0001t0068g0124 a0001c0001t0069g0001 a0001c0001t0070g0107 a0001c0001t0071g0025 a0001c0001t0072g0036 a0001c0001t0073g0001 a0001c0001t0074g0123 a0001c0001t0075g0114 a0001c0001t0076g0039 a0001c0001t0077g0011 a0001c0001t0078g0013 a0001c0001t0079g0001 a0001c0001t0080g0013 a0001c0001t0081g0001 a0001c0001t0105g0005 a0001c0001t0106g0004 a0001c0001t0129g0027 a0001c0001t0134g0027 a0001c0001t0151g0001 a0001c0001t0163g0001	141	394	0.3579	192	c.18 others(205): Show c.18618_*18619insGAGAGCTGAATACGTAGTTCCAGTCTGAGTCT GAAGCCTGAGTTCCAGGAGAGCTGAGGACATGGTTCCAGTCTGAATCTGA AGCCCGAGACCCAGGAGAGCTGATGGTGTGGTTCCAGTCTGAGTCTGAAG CCTGAGACCCACGAGAGCTGAAGACGTGGTTCCAGTCTGAGTCTGAAGCC TGAGACCCAC	PEX26	ENSG00000215193.14	transcript	ENST00000399744.8	protein_coding		1298		chr22	TogoVar
PFKP_chr10_3062548_3141802	3085334	T T	TCCCTCCC others(185): Show TCCCTCCCCAGCACAGTCCCCCACCCCCTCCCCAGCACAGTCCCCCACCC CCTCCCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCTCACCCG CTCACCAGCACAGTCCCTCACCCCCTCCCCAGCACAGTCCCCCACCCCCT CCCCAGCACAGTCCCCCACCCCCTCCCCAGCACAGTCCCCCAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0017 a0001c0004t0004g0017	1	376	0.0027	192	c.186 others(209): Show c.186+2875_186+2876insCTCCCCAGCACAGTCCCCCACCCCCTCC CCAGCACAGTCCCCCACCCCCTCCCCAGCACAGTCCCCCACTCCACTCTC CAGCACAGTCCCTCACCCGCTCACCAGCACAGTCCCTCACCCCCTCCCCA GCACAGTCCCCCACCCCCTCCCCAGCACAGTCCCCCACCCCCTCCCCAGC ACAGTCCCCCACCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085763	A A	AGTCCCCC others(185): Show AGTCCCCCAATCCCTCCCCAGCACAGTCCTCCACCCCATCCCCAGCACAG TCCTCCAACTCTCCCCAGCACAGTCTTCCACTCCACTCCAGGACAGTCCT CCACTCCACTCTCCAGGACAGTCCTCCACTCCACTCTCCAGCACAGTCCT CCACCCCATCCCTAGCACAGTCCTCCACCCCCTCCCCAGCACT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0327 a0001c0004t0008g0327	1	302	0.0033	192	c.186 others(209): Show c.186+3306_186+3307insCCCAATCCCTCCCCAGCACAGTCCTCCA CCCCATCCCCAGCACAGTCCTCCAACTCTCCCCAGCACAGTCTTCCACTC CACTCCAGGACAGTCCTCCACTCCACTCTCCAGGACAGTCCTCCACTCCA CTCTCCAGCACAGTCCTCCACCCCATCCCTAGCACAGTCCTCCACCCCCT CCCCAGCACTGTCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085763	A A	AGTGCCCC others(185): Show AGTGCCCCCCTCTACTCTCCAGCACAGTCCCCCAATCCCTCCCCAGCACA GTCCTCCACCCCATCCCCAGCACAGTCCTCCAACTCTCCCCAGCACAGTC TTCCACTCCACTCCAGGACAGTCCTCCACTCCACTCTCCAGCACAGTCCT CCACCCCATCCCTAGCACAGTCCTCCACCCCATCCCCAGCACT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02040.hp1 NA19043.hp1 HG00621.hp1 HG02040.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0011 a0001c0002 a0001c0003 a0001c0011	a0001c0002t0002 a0001c0003t0001 a0001c0011t0006 a0001c0002t0002 a0001c0003t0001 a0001c0011t0006	a0001c0002t0002g0041 a0001c0003t0001g0039 a0001c0011t0006g0189 a0001c0002t0002g0041 a0001c0003t0001g0039 a0001c0011t0006g0189	3	304	0.0099	192	c.186 others(209): Show c.186+3304_186+3305insGCCCCCCTCTACTCTCCAGCACAGTCCC CCAATCCCTCCCCAGCACAGTCCTCCACCCCATCCCCAGCACAGTCCTCC AACTCTCCCCAGCACAGTCTTCCACTCCACTCCAGGACAGTCCTCCACTC CACTCTCCAGCACAGTCCTCCACCCCATCCCTAGCACAGTCCTCCACCCC ATCCCCAGCACTGT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085763	A A	AGTGCCCC others(185): Show AGTGCCCCCCTCTACTCTCCAGCACAGTCCCCCAATCCCTCCCCAGCACA GTCCTCCACCCCATCCCCAGCACAGTCCTCCAACTCTCCCCAGCACAGTC TTCCACTCCACTCCAGGACAGTCCTCCACTCCACTCTCCAGCACAGTCCT CCACCCCCTCCCTAGCACAGTCCTCCACCCCATCCCCAGCACT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0256 a0001c0003t0001g0256	1	302	0.0033	192	c.186 others(209): Show c.186+3304_186+3305insGCCCCCCTCTACTCTCCAGCACAGTCCC CCAATCCCTCCCCAGCACAGTCCTCCACCCCATCCCCAGCACAGTCCTCC AACTCTCCCCAGCACAGTCTTCCACTCCACTCCAGGACAGTCCTCCACTC CACTCTCCAGCACAGTCCTCCACCCCCTCCCTAGCACAGTCCTCCACCCC ATCCCCAGCACTGT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHF3_chr6_63630802_63731011	63688231	C C	CCCCCCTC others(185): Show CCCCCCTCCCCTCCCCATCCCCTCCCACTCCGCTCGCCTCCCCTCCCCCT CCCCCGTCCCTCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCATCCC CCTCCCCTCTCCCATCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCCTCCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0239 a0001c0001t0003g0239	1	25	0.0400	192	c.218 others(211): Show c.2189+2324_2189+2325insCTCCCCTCCCCATCCCCTCCCACTCC GCTCGCCTCCCCTCCCCCTCCCCCGTCCCTCTCCCATCCCCCTCCCCTCT CCCATCCCCCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCCCTCCCC TCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTTCCCCTC CCCTCCCCCCTTCCCC	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCTCCC others(185): Show GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0041 a0041	a0041c0024 a0041c0024	a0041c0024t0001 a0041c0024t0001	a0041c0024t0001g0004 a0041c0024t0001g0004	1	82	0.0122	192	c.575 others(213): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKIA_chr8_78511340_78610267	78524000	T T	TTATATAT others(185): Show TTATATATATAAATATATATAAACATTTATATATATAAATATATATAAAC ATTTATATATATAAATATATATAAACATTTATATATATAAATATATATAA ACATTTATATATATAAATATATATAAATATATATAAACGTTTATATATAT AAATATATATAAACGTTTATATATATAAATATATAAACGTTTA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	128	0.0078	192	c.-15 others(211): Show c.-157+7540_-157+7541insTAAATATATATAAACATTTATATATA TAAATATATATAAACATTTATATATATAAATATATATAAACATTTATATA TATAAATATATATAAACATTTATATATATAAATATATATAAATATATATA AACGTTTATATATATAAATATATATAAACGTTTATATATATAAATATATA AACGTTTATATATATA	PKIA	ENSG00000171033.13	transcript	ENST00000396418.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar

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