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
NOP14_chr4_2932936_2968406	2961123	T T	TATTAATA others(205): Show TATTAATATTGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATATATACTAACTATATTAA TAATATAGTTAGTATATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	422	0.0024	212	c.195 others(229): Show c.195+2001_195+2002insTAGTTACTATATATTAATATACTAACTA TATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATA TAGTTACTATATATTAATATATACTAACTATATTATTAATATAGTTAGTA TATATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATAT AGTTACTATATATTAATATACTAACAATATTAAT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NRCAM_chr7_108142649_108461436	108164029	G G	GTGAGAGG others(205): Show GTGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTG GGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGT CATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGG TAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGG TGGGGTGGGGTAA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	208	0.0048	212	c.346 others(231): Show c.3466+2891_3466+2892insTTACCCCACCCCACCCGGTATGACCT CTCACTACCCCACCCCACCCGGTATGACCTCTCATTACCGCCACCCCACC CGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCACTACC CCACCCCACCCGGTATGACCTCTCATTACCGCCACCCCACCCGGTATGAC CTCTCACTACCCCACCCCACCTGGTATGACCTCTCA	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRCAM_chr7_108142649_108461436	108164056	G G	GGTAATGA others(205): Show GGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCG GGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGA GGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCAGGTGGGGTG GGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACC GGGTGGGGTGGCA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	208	0.0048	212	c.346 others(231): Show c.3466+2864_3466+2865insTGCCACCCCACCCGGTATGACCTCTC ATTACCCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCTGGT ATGACCTCTCATTACCGCCACCCCACCCGGTATGACCTCTCACTACCCCA CCCCACCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCT CACTACCCCACCCCACCCGGTATGACCTCTCATTAC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NTS_chr12_85869295_85887992	85879256	A A	ATATTTTA others(205): Show ATATTTTATGTACGTAAAATATATTTTATGTATATTTTATGTACGTAAAA TATATTTTATGTATATTTTATGTACGTAAAATATATTTTATGTATATTTT ATGTACGTAAAATATATTTTTATATATATTTTATGTACGTAAAATATATT TATATATATATTTTATGTACGTAAAATATATTTATATATATATTTTATGT ATATTTTATGTAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	420	0.0024	212	c.360 others(227): Show c.360+687_360+688insTATTTTATGTACGTAAAATATATTTTATGT ATATTTTATGTACGTAAAATATATTTTATGTATATTTTATGTACGTAAAA TATATTTTATGTATATTTTATGTACGTAAAATATATTTTTATATATATTT TATGTACGTAAAATATATTTATATATATATTTTATGTACGTAAAATATAT TTATATATATATTTTATGTATATTTTATGTAT	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3			chr12	TogoVar
NTS_chr12_85869295_85887992	85879256	A A	ATATTTTA others(205): Show ATATTTTATGTACGTAAAATATATTTTATGTATATTTTATGTACGTAAAA TATATTTTATGTATATTTTATGTACGTAAAATATATTTTATGTATATTTT ATGTACGTAAAATATATTTTTATATATATTTTATGTACGTAAAATATATT TATATATATATTTTATGTATGTAAAATATATTTATATATATATTTTATGT ATATTTTATGTAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	420	0.0024	212	c.360 others(227): Show c.360+687_360+688insTATTTTATGTACGTAAAATATATTTTATGT ATATTTTATGTACGTAAAATATATTTTATGTATATTTTATGTACGTAAAA TATATTTTATGTATATTTTATGTACGTAAAATATATTTTTATATATATTT TATGTACGTAAAATATATTTATATATATATTTTATGTATGTAAAATATAT TTATATATATATTTTATGTATATTTTATGTAT	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3			chr12	TogoVar
NXN_chr17_794310_984776	949224	G G	GCCTCCTC others(205): Show GCCTCCTCCTCTCCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC CTCTCCCCGCGGCCTCCTCCTCTCCTCCCCTGCCTCCTCCTCTCCCCCCT GCCTCCTCTCTCTCCCCCTGCCTCCTCCTCTCCCCGTGCCTCCTCCTCTC CCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTC TCTCCCCCTGCCT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0052 a0001c0001t0023g0052	1	242	0.0041	212	c.360 others(231): Show c.360+30094_360+30095insAGGCAGGGGGAGAGAGGAGGCAGGGG GGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGC ACGGGGAGAGGAGGAGGCAGGGGGAGAGAGAGGAGGCAGGGGGGAGAGGA GGAGGCAGGGGAGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCAGGGGGGGAGAGGAGGAGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPTN_chr10_13095163_13143308	13115253	T T	TTATATCT others(205): Show TTATATCTATATTTATATCTATATTTATATATATTTATAAATATAGATAT ATCTATATTTATAAATATTTATAAATATAGATATATCTATATTTATATAT ATTTATAAATATAGATATATCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTACATATATATATAAATATAGATATATCTATATATATAT TTATAAATATAGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0011 a0001c0009t0011	a0001c0009t0011g0274 a0001c0009t0011g0274	1	418	0.0024	212	c.553 others(227): Show c.553-997_553-996insCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATAAATATTTATAAATATAGATATATCTATATTTATAT ATATTTATAAATATAGATATATCTATATTTATATATATTTATAAATATAG ATATATCTATATTTACATATATATATAAATATAGATATATCTATATATAT ATTTATAAATATAGATATATCTATATTTATAT	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OPTN_chr10_13095163_13143308	13115253	T T	TTATATCT others(205): Show TTATATCTATATTTATATCTATATTTATATATATTTATAAATATAGATAT ATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATATAT ATATAAATATAGATATATCTATATTTATATATATTTATAAATATAGATAT ATCTATATTTACATATATATATATAAATATAGATATATCTATATATATAT TTATAAATATAGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0254 a0001c0002t0004g0254	1	418	0.0024	212	c.553 others(227): Show c.553-997_553-996insCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATAT ATATATAAATATAGATATATCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTACATATATATATATAAATATAGATATATCTATATATAT ATTTATAAATATAGATATATCTATATTTATAT	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OR10G3_chr14_21563520_21585076	21564215	C C	CCGCAGAA others(205): Show CCGCAGAACTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAG TAGAGACGGGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0005 a0001c0005t0005g0005	1	442	0.0023	212	c.55 others(223): Show c.5587_*5588insAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAGAGTTCTGCG	OR10G3	ENSG00000169208.3	transcript	ENST00000641040.1	protein_coding		4304		chr14	TogoVar
OR2T1_chr1_248398048_248413020	248408128	G G	GGGAGTTT others(205): Show GGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGGT CACGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGATAGTGGCAGAT GGTCACGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCA GATGGTCACGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTG GCAGATGGTCATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00673.hp2 HG00741.hp1 others(46): Show HG00597.hp2 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01928.hp2 HG02040.hp2 HG02148.hp2 HG02523.hp1 HG02723.hp2 HG03139.hp2 NA18747.hp1 NA18940.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18951.hp1 NA18960.hp1 NA18960.hp2 NA18972.hp2 NA18991.hp2 NA19001.hp1 NA19011.hp1 NA19011.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0003 a0001c0001t0007 a0005c0005t0003 others(1): Show a0001c0001t0003 a0001c0001t0007 a0005c0005t0003 a0005c0005t0010	a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0013 others(31): Show a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0027 a0001c0001t0003g0044 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0079 a0001c0001t0003g0149 a0001c0001t0007g0037 a0001c0001t0007g0151 a0001c0001t0007g0170 a0005c0005t0003g0038 a0005c0005t0010g0150	49	266	0.1842	212	c.10 others(223): Show c.1024_*1025insGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAG ATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGAGCATTTGACTG TAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGCGCATTTGA CTGTAGATAGTGGCAGATGGTCACGGGAGTTTAGCTTGGGCTAGCGCATT TGACTGTAGATAGTGGCAGATGGTCATA	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding		109		chr1	TogoVar
OR2T1_chr1_248398048_248413020	248408140	T T	TGGGCTAG others(205): Show TGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGTTTA GCTTGGGCTAGAGCATTTGACTGTAGATAGTGGCAGATGGTCACGGGAGT TTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGGTCACGGG AGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTGGCAGATGGTCAT AGGAGTTTAGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	266	0.0038	212	c.10 others(223): Show c.1036_*1037insGGGCTAGCGCATTTGACTGTAGATAGTGGCAGAT GGTCACGGGAGTTTAGCTTGGGCTAGAGCATTTGACTGTAGATAGTGGCA GATGGTCACGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATAGTG GCAGATGGTCACGGGAGTTTAGCTTGGGCTAGCGCATTTGACTGTAGATA GTGGCAGATGGTCATAGGAGTTTAGCTG	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding		121		chr1	TogoVar
OR2T1_chr1_248398048_248413020	248408347	T T	TAGCTCGG others(205): Show TAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGA GTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACG GGAGTTTAGCTCGGGCTAGCGCATTTGACTGTAGATAGCGGCAGATGGTC ACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATG GTCCCGGGAGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0094 a0001c0001t0009g0094	1	266	0.0038	212	c.12 others(223): Show c.1243_*1244insAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGG CAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAG CGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGCGCATTTGACTGTAGA TAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGT AGATAGCGGCAGATGGTCCCGGGAGTTG	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding		328		chr1	TogoVar
OR2T1_chr1_248398048_248413020	248408432	T T	TGGCAGAT others(205): Show TGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGA TAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGT AGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGAC TGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTT CACTGCAGATAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0025 a0002c0002t0002g0025	1	266	0.0038	212	c.13 others(223): Show c.1328_*1329insGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGA GCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCT AGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGG GCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCT CGGGCTAGAGCATTTCACTGCAGATAGC	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding		413		chr1	TogoVar
OR2T1_chr1_248398048_248413020	248408519	A A	AGCATTTG others(205): Show AGCATTTGACTGCAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGC TAGCGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCG GGCTAGAGCATTTGACTGTAGATAGCAGCAGATGGCCACGGGAGTTTAGC TCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTT AGCTCGGGCTAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0094 a0001c0001t0009g0094	1	266	0.0038	212	c.14 others(223): Show c.1415_*1416insGCATTTGACTGCAGATAGCGGCAGATGGTCACGG GAGTTTAGCTCGGGCTAGCGCATTTGACTGTAGATAGCGGCAGATGGTCA CGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCAGCAGATGG CCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGA TGGTCACGGGAGTTTAGCTCGGGCTAGC	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding		500		chr1	TogoVar
OR2T1_chr1_248398048_248413020	248408890	A A	AGCATTTG others(205): Show AGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGC TAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCG GGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGC TCGGGCTAGCGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTT AGCTCGGGCTAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG02897.hp1 others(1): Show HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0024 a0001c0001t0002g0010 a0001c0001t0002g0024	4	266	0.0150	212	c.17 others(223): Show c.1786_*1787insGCATTTGACTGTAGATAGCGGCAGATGGTCACGG GAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCA CGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGG TCACGGGAGTTTAGCTCGGGCTAGCGCATTTGACTGTAGATAGCGGCAGA TGGTCACGGGAGTTTAGCTCGGGCTAGC	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding		871		chr1	TogoVar
OR2T1_chr1_248398048_248413020	248408943	A A	AGCATTTG others(205): Show AGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGC TAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCG GGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGC TCGGGCTAGCGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTT AGCTCGGGCTAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG03486.hp1 HG02886.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	266	0.0075	212	c.18 others(223): Show c.1839_*1840insGCATTTGACTGTAGATAGCGGCAGATGGTCACGG GAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCA CGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGG TCACGGGAGTTTAGCTCGGGCTAGCGCATTTGACTGTAGATAGCGGCAGA TGGTCACGGGAGTTTAGCTCGGGCTAGC	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding		924		chr1	TogoVar
OR4F17_chr19_102104_118156	107888	T T	TTATAAAT others(205): Show TTATAAATATATATATATTATATATATATAATATTATATATATATATATA GATATATTATATATATATATATATTATTATATAATATAATATATATTATA TAATATATTTTTATTATATAATATAATAAATATTATATAATATAATATAT TTTATTATATAAATATATATTATATTATATAATATAATATATATTTATAT AATATAAAATATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0028 a0003c0012t0001g0028	1	227	0.0044	212	c.-55 others(227): Show c.-55+337_-55+338insAATATATATATATTATATATATATAATATT ATATATATATATATAGATATATTATATATATATATATATTATTATATAAT ATAATATATATTATATAATATATTTTTATTATATAATATAATAAATATTA TATAATATAATATATTTTATTATATAAATATATATTATATTATATAATAT AATATATATTTATATAATATAAAATATATATA	OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
OR4F5_chr1_60419_76585	66222	T T	TTATATAT others(205): Show TTATATATATAATATATATTATATATATAATATTATATATATAATATATA TTATATTATATATATTATATATATTATATATATTATATATATTATATATA TTATATATATATTATATATATAATATATATAATATATATAATATAATATA TTTTATATATATATAATATATTATATAATATAATATATATATTATATATA TAATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0051 a0003c0004t0003g0051	1	215	0.0047	212	c.9+6 others(223): Show c.9+649_9+650insTATATATATAATATATATTATATATATAATATTA TATATATAATATATATTATATTATATATATTATATATATTATATATATTA TATATATTATATATATTATATATATATTATATATATAATATATATAATAT ATATAATATAATATATTTTATATATATATAATATATTATATAATATAATA TATATATTATATATATAATATATATATA	OR4F5	ENSG00000186092.7	transcript	ENST00000641515.2	protein_coding	2/2			chr1	TogoVar
OR4F5_chr1_60419_76585	66249	A A	ATATATTA others(205): Show ATATATTATATATATTATATATATTATATATATTATATATATTATATATA TATTATATATATAATATATATAATATATATAATATAATATATTTTATATA TATATAATATATTATATAATATAATATATATATTATATATATAATATATA TATAATATAATATAATATAATATATTATATATATAATATATGATATAAAT ATAATATATATTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01515.hp2 HG00099.hp1 HG01515.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0019 a0003c0004t0003g0019	2	215	0.0093	212	c.9+6 others(223): Show c.9+678_9+679insTATTATATATATTATATATATTATATATATTATA TATATTATATATATATTATATATATAATATATATAATATATATAATATAA TATATTTTATATATATATAATATATTATATAATATAATATATATATTATA TATATAATATATATATAATATAATATAATATAATATATTATATATATAAT ATATGATATAAATATAATATATATTTTA	OR4F5	ENSG00000186092.7	transcript	ENST00000641515.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OSGIN1_chr16_83948240_83971332	83950484	C C	CACATGCA others(205): Show CACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACA CGTACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCA CACGTACACGCACACATGAGCACATGTGCACACATGCACATACATACTGG CACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATA CTGGCACACACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 NA18955.hp1 NA19070.hp1 HG02523.hp2 NA18955.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0001 a0001c0001t0001g0001 a0001c0002t0001g0001	3	350	0.0086	212	c.-29 others(223): Show c.-2919_-2918insACATGCACACATGAGCACATGTGCACACATGCAC ATACATACTGGCACACGTACATGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACAT GCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCAC ACATGCACATACATACTGGCACACACGT	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2755		chr16	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(205): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCC CTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTC CCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCC TCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03041.hp2 HG03130.hp1 others(4): Show HG02257.hp2 HG03041.hp2 HG03130.hp1 HG03471.hp1 HG03486.hp1 NA18522.hp2 NA18906.hp2	a0001 a0021 a0001 a0021	a0001c0001 a0001c0004 a0021c0019 a0001c0001 a0001c0004 a0021c0019	a0001c0001t0009 a0001c0001t0023 a0001c0001t0034 others(4): Show a0001c0001t0009 a0001c0001t0023 a0001c0001t0034 a0001c0001t0035 a0001c0001t0041 a0001c0004t0030 a0021c0019t0009	a0001c0001t0009g0217 a0001c0001t0023g0205 a0001c0001t0034g0219 others(4): Show a0001c0001t0009g0217 a0001c0001t0023g0205 a0001c0001t0034g0219 a0001c0001t0035g0216 a0001c0001t0041g0276 a0001c0004t0030g0228 a0021c0019t0009g0214	7	308	0.0227	212	c.226 others(231): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCTTCCTC CCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCC CCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTC CACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(205): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	436	0.0023	212	c.-26 others(223): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(205): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 NA19010.hp1 HG02602.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	2	436	0.0046	212	c.-26 others(223): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCGF3_chr4_700832_775089	759609	T T	TTCCGGAC others(205): Show TTCCGGACTCCAGTTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTGTTC TCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTG TTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAG TTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCC GAGCTCTTCTCGC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0048 a0002c0002t0048	a0002c0002t0048g0047 a0002c0002t0048g0047	1	366	0.0027	212	c.463 others(229): Show c.463-1660_463-1659insAGTTCTTTCTCCCCGCGCGGCCCCTCTC CCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCT CTCCCGAGTTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCC CCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCG GCCCCTCTCCCGAGCTCTTCTCGCTCCGGACTCC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	759761	C C	CTTCTCCT others(205): Show CTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCTCGCGGCCCCTCTCCCGA GTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCTCGCGGCCCCTCTCC CGAGCTCTTCTCGCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTC TCCCGAGTTCTTCTCCCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCC CTCTCCCGAGTTG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0347 a0001c0003t0005g0347	1	366	0.0027	212	c.463 others(229): Show c.463-1487_463-1486insTCGCGGCCCCTCTCCCGAGTTCTTCTCC TTCCGGACTCCGGGTCTTTCTCCCCTCGCGGCCCCTCTCCCGAGCTCTTC TCGCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTC TTCTCCCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAG TTGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE4B_chr1_65787895_66379574	66127175	T T	TAAGATTG others(205): Show TAAGATTGTACTATGAGAAGGGGAATATCACACTCTGGGGACTGTGGTGG GGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGA TGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGT AACTAACCTGCACAATATGCACATGTACCCTAAAACTTAGAGTATAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0035	1	118	0.0085	212	c.282 others(233): Show c.282-120270_282-120269insGAAGGGGAATATCACACTCTGGGG ACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACC TAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGT ATACATATGTAACTAACCTGCACAATATGCACATGTACCCTAAAACTTAG AGTATAAAAAAAAAAAAAAAAAAAAGATTGTACTATGA	PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PERM1_chr1_970198_987093	976911	C C	CCCCGGGA others(205): Show CCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCC GCTCCCCGCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGG AACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCCC AATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCC CACGACCCCCAAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01884.hp2 HG02055.hp2 others(17): Show HG01069.hp2 HG01884.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02630.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp2 NA19043.hp1 NA20129.hp1	a0002 a0015 a0002 a0015	a0002c0002 a0002c0008 a0002c0011 others(1): Show a0002c0002 a0002c0008 a0002c0011 a0015c0043	a0002c0002t0002 a0002c0008t0002 a0002c0011t0002 others(1): Show a0002c0002t0002 a0002c0008t0002 a0002c0011t0002 a0015c0043t0002	a0002c0002t0002g0007 a0002c0002t0002g0047 a0002c0002t0002g0243 others(9): Show a0002c0002t0002g0007 a0002c0002t0002g0047 a0002c0002t0002g0243 a0002c0002t0002g0245 a0002c0002t0002g0248 a0002c0002t0002g0253 a0002c0008t0002g0261 a0002c0008t0002g0263 a0002c0008t0002g0264 a0002c0011t0002g0046 a0002c0011t0002g0239 a0015c0043t0002g0266	20	408	0.0490	212	c.215 others(229): Show c.2150-288_2150-287insATTGGGGGTCGTGGGAGGCGGTTCTCGG GGTTGGCGGGGTGGTGGGAGGCGGTTCCCGGGATTGGGGGTCGTGGGAGG CGGTTCCCGGGGTTGGTCGGTGGGGGCAGGCGGTTCCCGGGGTTGGTCGG TGGGGGCAGGCGGTTCCCGGGGTTGCGCGGGGAGCGGGAGGCGGTTCCCG GGGTTGGTGGGGGGAGCGGGAGGCGGTTCCCGGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	976911	C C	CCCCGGGA others(205): Show CCCCGGGAAGCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCC GCTCCCCGCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGG AACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCCC AATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCC CACGACCCCCAAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0265 a0002c0008t0002g0265	1	408	0.0025	212	c.215 others(229): Show c.2150-288_2150-287insATTGGGGGTCGTGGGAGGCGGTTCTCGG GGTTGGCGGGGTGGTGGGAGGCGGTTCCCGGGATTGGGGGTCGTGGGAGG CGGTTCCCGGGGTTGGTCGGTGGGGGCAGGCGGTTCCCGGGGTTGGTCGG TGGGGGCAGGCGGTTCCCGGGGTTGCGCGGGGAGCGGGAGGCGGTTCCCG GGGTTGGTGGGGGGAGCGGGAGGCGCTTCCCGGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	976943	C C	CCCCGGGA others(205): Show CCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCC GCTCCCCGCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGG AACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCCC AATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCC CACGACCCCCAAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0247 a0002c0002t0002g0247	1	408	0.0025	212	c.215 others(229): Show c.2150-320_2150-319insATTGGGGGTCGTGGGAGGCGGTTCTCGG GGTTGGCGGGGTGGTGGGAGGCGGTTCCCGGGATTGGGGGTCGTGGGAGG CGGTTCCCGGGGTTGGTCGGTGGGGGCAGGCGGTTCCCGGGGTTGGTCGG TGGGGGCAGGCGGTTCCCGGGGTTGCGCGGGGAGCGGGAGGCGGTTCCCG GGGTTGGTGGGGGGAGCGGGAGGCGGTTCCCGGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PHF3_chr6_63630802_63731011	63688231	C C	CCCCCCTC others(205): Show CCCCCCTCCCCTCCCCATCCCCTCCCACTCCGCTCGCCTCCCCTCCCCCT CCCCCCGTCCCTCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCATCC CCCTCCCCTCTCCCATCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTTCCCCT CCCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	320	0.0031	212	c.218 others(231): Show c.2189+2324_2189+2325insCTCCCCTCCCCATCCCCTCCCACTCC GCTCGCCTCCCCTCCCCCTCCCCCCGTCCCTCTCCCATCCCCCTCCCCTC TCCCATCCCCCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCC TCCCCTCCCCCCTTCCCCTCCCCTCCCCCCTTCCCC	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PIEZO1_chr16_88710338_88790220	88712921	C C	CCCCCTTC others(205): Show CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTC ATGCCCCTGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02280.hp2 others(3): Show HG01891.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG03209.hp1 NA18906.hp2	a0024 a0027 a0078 others(1): Show a0024 a0027 a0078 a0087	a0024c0028 a0027c0036 a0078c0148 others(1): Show a0024c0028 a0027c0036 a0078c0148 a0087c0144	a0024c0028t0001 a0024c0028t0010 a0027c0036t0003 others(2): Show a0024c0028t0001 a0024c0028t0010 a0027c0036t0003 a0078c0148t0001 a0087c0144t0003	a0024c0028t0001g0221 a0024c0028t0010g0004 a0027c0036t0003g0013 others(3): Show a0024c0028t0001g0221 a0024c0028t0010g0004 a0027c0036t0003g0013 a0027c0036t0003g0014 a0078c0148t0001g0272 a0087c0144t0003g0015	6	282	0.0213	212	c.26 others(223): Show c.2683_*2684insCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGG GAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGG GGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCA GGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCAT GAGTGGGGGTCAGGGCCCGGGGAAGGGG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2416		chr16	TogoVar
PJA2_chr5_109329722_109414974	109340619	C C	CCTCTCCC others(205): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01256.hp1 HG01258.hp2 others(2): Show HG00597.hp1 HG01256.hp1 HG01258.hp2 HG01516.hp2 HG03669.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0023 a0003c0003t0002 a0003c0003t0023	a0003c0003t0002g0070 a0003c0003t0002g0077 a0003c0003t0002g0096 others(2): Show a0003c0003t0002g0070 a0003c0003t0002g0077 a0003c0003t0002g0096 a0003c0003t0002g0304 a0003c0003t0023g0340	5	346	0.0145	212	c.200 others(231): Show c.2002-3264_2002-3263insAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PLEKHG4B_chr5_87168_194966	100372	T T	TAATCCAT others(205): Show TAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCTCTGGAGAAAGTCTGTAGGGGAGAGACTG TTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGA CTGTTGTGAGGTA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03195.hp2 HG03041.hp2 HG03195.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0018 a0006c0020t0056 a0006c0020t0018 a0006c0020t0056	a0006c0020t0018g0198 a0006c0020t0056g0199 a0006c0020t0018g0198 a0006c0020t0056g0199	2	210	0.0095	212	c.45+ others(227): Show c.45+8121_45+8122insTCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT TAATCCATATAAAGCTCTGGAGAAAGTCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTAAATCCATATAAAGCCCTGGAAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	100451	C C	CCTGTAGG others(205): Show CCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAA AAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGG AAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCC TGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAA CCCTGGAAAAAGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0033 a0033	a0033c0077 a0033c0077	a0033c0077t0061 a0033c0077t0061	a0033c0077t0061g0178 a0033c0077t0061g0178	1	210	0.0048	212	c.45+ others(227): Show c.45+8201_45+8202insTAATCCATATAAAGCCCTGGAAAAAGCCTG TAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGC CTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAA AGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAACCCTGGA AAAAGTCTGTAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	100822	T T	TCTGTAGG others(205): Show TCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAA AAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGG GAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCC TGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAG CTCTGGAAAAAGC	intron_variant intron_variant	MODIFIER	HG02897.hp2 NA18522.hp1 HG02897.hp2 NA18522.hp1	a0006 a0040 a0006 a0040	a0006c0074 a0040c0076 a0006c0074 a0040c0076	a0006c0074t0036 a0040c0076t0037 a0006c0074t0036 a0040c0076t0037	a0006c0074t0036g0206 a0040c0076t0037g0203 a0006c0074t0036g0206 a0040c0076t0037g0203	2	210	0.0095	212	c.45+ others(227): Show c.45+8572_45+8573insTAATCCATATAAAGCCCTGGAAAAAGCCTG TAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGGAAAAGC CTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAA AGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGA AAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	100917	C C	CCTGGGAA others(205): Show CCTGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAA AGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATA TAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCC ATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0006 a0006	a0006c0073 a0006c0073	a0006c0073t0018 a0006c0073t0018	a0006c0073t0018g0202 a0006c0073t0018g0202	1	210	0.0048	212	c.45+ others(227): Show c.45+8645_45+8646insGAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTG TTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCTCTGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	100981	T T	TCTGTAGG others(205): Show TCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGGAA AAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGG AAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCC TGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAG CTCTGGAAAAAGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp1 NA18906.hp2 HG02451.hp1 HG03041.hp1 NA18906.hp2	a0012 a0012	a0012c0019 a0012c0069 a0012c0019 a0012c0069	a0012c0019t0050 a0012c0019t0052 a0012c0069t0046 a0012c0019t0050 a0012c0019t0052 a0012c0069t0046	a0012c0019t0050g0182 a0012c0019t0052g0183 a0012c0069t0046g0186 a0012c0019t0050g0182 a0012c0019t0052g0183 a0012c0069t0046g0186	3	210	0.0143	212	c.45+ others(227): Show c.45+8731_45+8732insTAATCCATATAAAGCCCTGGGAAAAGCCTG TAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGT CTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAA AGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGA AAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101816	C C	CCTGGAAA others(205): Show CCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAA AGCCCGGGGAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATA TAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCC ATATAAAGCCCTGGGAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0078 a0001c0053t0078	a0001c0053t0078g0148 a0001c0053t0078g0148	1	210	0.0048	212	c.45+ others(227): Show c.45+9545_45+9546insAAAAGCCTGTAGGGGAGAGACTGTTGTGAG GTAAATCCATATAAAGCCCGGGGAAAAGCCTGTAGGGGAGAGACTGTTGT GAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGT TGTGAGGTAAATCCATATAAAGCCCTGGGAAAAGTCTGTAGGGGAGAGAC TGTTGTGAGGTTAATCCATATAAAGCTCTGGA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101880	T T	TCTGTAGG others(205): Show TCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAA AAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGG AGAAAGTCTATAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCC TGGAAAAAGTCTGTAGGGGAGACACTGTTGTGAGGTTAATCCATATAAAG CCCTGGAAAAAGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp2 NA19030.hp2 HG02622.hp2 HG02809.hp2 NA19030.hp2	a0018 a0029 a0043 a0018 a0029 a0043	a0018c0033 a0029c0059 a0043c0035 a0018c0033 a0029c0059 a0043c0035	a0018c0033t0039 a0029c0059t0040 a0043c0035t0042 a0018c0033t0039 a0029c0059t0040 a0043c0035t0042	a0018c0033t0039g0140 a0029c0059t0040g0158 a0043c0035t0042g0163 a0018c0033t0039g0140 a0029c0059t0040g0158 a0043c0035t0042g0163	3	210	0.0143	212	c.45+ others(227): Show c.45+9630_45+9631insTAATCCATATAAAGCTCTGGAAAAAGCCTG TAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAGAAAGT CTATAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAA AGTCTGTAGGGGAGACACTGTTGTGAGGTTAATCCATATAAAGCCCTGGA AAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	102028	C C	CCTGGAAA others(205): Show CCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAA AGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATA TAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCC ATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAA TCCATATAAAGCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp1 NA18906.hp2 HG02451.hp1 HG03041.hp1 NA18906.hp2	a0012 a0012	a0012c0019 a0012c0069 a0012c0019 a0012c0069	a0012c0019t0050 a0012c0019t0052 a0012c0069t0046 a0012c0019t0050 a0012c0019t0052 a0012c0069t0046	a0012c0019t0050g0182 a0012c0019t0052g0183 a0012c0069t0046g0186 a0012c0019t0050g0182 a0012c0019t0052g0183 a0012c0069t0046g0186	3	210	0.0143	212	c.45+ others(227): Show c.45+9762_45+9763insCCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT TAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTG TGAGGTAAATCCATATAAAGCTCTGGAAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	102163	C C	CTGTGAGG others(205): Show CTGTGAGGTAAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAG AGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGTCTATAGGG GAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTA GGGGAGAGACTGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0035 a0001c0013t0035	a0001c0013t0035g0122 a0001c0013t0035g0122	1	210	0.0048	212	c.45+ others(227): Show c.45+9895_45+9896insAAATCCATATAAAGCTCTGGAAAAAGTCTG TAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGT CTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAA AGTCTATAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGA AAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHN1_chr1_961482_980865	976911	C C	CCCCGGGA others(205): Show CCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCC GCTCCCCGCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGG AACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCCC AATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCC CACGACCCCCAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01884.hp1 HG02055.hp2 others(19): Show HG01069.hp2 HG01884.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp2 NA19043.hp1 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0017	a0001c0001 a0001c0010 a0002c0002 others(4): Show a0001c0001 a0001c0010 a0002c0002 a0003c0021 a0007c0015 a0007c0026 a0017c0041	a0001c0001t0002 a0001c0001t0007 a0001c0010t0002 others(6): Show a0001c0001t0002 a0001c0001t0007 a0001c0010t0002 a0002c0002t0002 a0003c0021t0002 a0007c0015t0002 a0007c0015t0007 a0007c0026t0002 a0017c0041t0002	a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0041 others(11): Show a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0041 a0001c0001t0002g0097 a0001c0001t0007g0006 a0001c0010t0002g0076 a0002c0002t0002g0003 a0003c0021t0002g0006 a0007c0015t0002g0040 a0007c0015t0002g0041 a0007c0015t0002g0042 a0007c0015t0007g0042 a0007c0026t0002g0038 a0017c0041t0002g0113	22	422	0.0521	212	c.23 others(223): Show c.2336_*2337insCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCC CGGGAACCGCCTCCCGCTCCCCGCGCAACCCCGGGAACCGCCTGCCCCCA CCGACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCG CCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCAACC CCGAGAACCGCCTCCCACGACCCCCAAT	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1047		chr1	TogoVar
PLEKHN1_chr1_961482_980865	976911	C C	CCCCGGGA others(205): Show CCCCGGGAAGCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCC GCTCCCCGCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGG AACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCCC AATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCC CACGACCCCCAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0007 a0007	a0007c0026 a0007c0026	a0007c0026t0002 a0007c0026t0002	a0007c0026t0002g0038 a0007c0026t0002g0038	1	422	0.0024	212	c.23 others(223): Show c.2336_*2337insCCCGGGAAGCGCCTCCCGCTCCCCCCACCAACCC CGGGAACCGCCTCCCGCTCCCCGCGCAACCCCGGGAACCGCCTGCCCCCA CCGACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCG CCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCAACC CCGAGAACCGCCTCCCACGACCCCCAAT	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1047		chr1	TogoVar
PLEKHN1_chr1_961482_980865	976943	C C	CCCCGGGA others(205): Show CCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCC GCTCCCCGCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGG AACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCCC AATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCC CACGACCCCCAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0064 a0002c0002t0002g0064	1	422	0.0024	212	c.23 others(223): Show c.2368_*2369insCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCC CGGGAACCGCCTCCCGCTCCCCGCGCAACCCCGGGAACCGCCTGCCCCCA CCGACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCG CCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCAACC CCGAGAACCGCCTCCCACGACCCCCAAT	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1079		chr1	TogoVar
PNMA5_chrX_152983824_152999116	152998738	T T	TTTATATA others(205): Show TTTATATATAATATATAATATATATTTATATAAAAATATATTATATATAA TATAATATATATTATATATAATATATATTTATATATAATATAATATATAA TATATAAAAATATATTTATATATATTATATTATATACAATATATTATATA TATTATATTATATATAATATATTATATATATTATATTATATATAATATAT TATATATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	286	0.0105	212	c.-50 others(223): Show c.-5036_-5035insTATAATATATATAATATATTATATATAATATAAT ATATATAATATATTATATATAATATAATATATATAATATATTGTATATAA TATAATATATATAAATATATTTTTATATATTATATATTATATTATATATA AATATATATTATATATAATATATATTATATTATATATAATATATTTTTAT ATAAATATATATTATATATTATATATAA	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4623		chrX	TogoVar
PNPLA1_chr6_36265060_36318955	36275948	T T	TTTTCTTT others(205): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02155.hp1 HG02055.hp2 HG02155.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0007 a0001c0003 a0003c0007	a0001c0003t0006 a0003c0007t0001 a0001c0003t0006 a0003c0007t0001	a0001c0003t0006g0369 a0003c0007t0001g0380 a0001c0003t0006g0369 a0003c0007t0001g0380	2	386	0.0052	212	c.205 others(229): Show c.205+5311_205+5312insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPARGC1B_chr5_149725310_149860022	149809134	G G	GATAGATA others(205): Show GATAGATAGATAGATAGATAGATAGATAGATAGATAGATCCATCTCCACC ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATCCATCTCT ACCATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATA GATCCATCTCTACCATAGATAGATAGATAGATAGATAGATAGATAGATAG ATCCATCTCTACC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0010 a0010	a0010c0021 a0010c0021	a0010c0021t0061 a0010c0021t0061	a0010c0021t0061g0311 a0010c0021t0061g0311	1	320	0.0031	212	c.79- others(229): Show c.79-11269_79-11268insAGATAGATCCATCTCCACCATAGATAGA TAGATAGATAGATAGATAGATAGATAGATAGATCCATCTCTACCATAGAT AGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATCCATCT CTACCATAGATAGATAGATAGATAGATAGATAGATAGATAGATCCATCTC TACCATAGATAGATAGATAGATAGATAGATAGAT	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP1R7_chr2_241145467_241188652	241187752	G G	GAGGAGAA others(205): Show GAGGAGAAGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACAGG AGGAGGGGAGTGGGGAGAAAGGAGAAGGAAGAGGAGAGGGAGAAGTGGGG GGGGAGGGGGAGAAACGATAGGAGGAGGGGGAGTGGGGAGAAAGGAGAAG GAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACGATAGGAGGAGG GGAGTGGGGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	396	0.0025	212	c.49 others(223): Show c.4929_*4930insAGGAGAAGGAAGAGGAGAGGGAGAAGTGGGGGGG AGGGGGAGAAACAGGAGGAGGGGAGTGGGGAGAAAGGAGAAGGAAGAGGA GAGGGAGAAGTGGGGGGGGAGGGGGAGAAACGATAGGAGGAGGGGGAGTG GGGAGAAAGGAGAAGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGA AACGATAGGAGGAGGGGAGTGGGGAGAA	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding		4101		chr2	TogoVar
PPP2R3B_chrX_328933_391907	356822	C C	CGTGAGCC others(205): Show CGTGAGCCCCACAGTATCCACACCCTGCCAGCCCCATGGTAACCACACCC TGCCAGCCACACAGCGAGCCCCACGGTAACCACGCCCCGGCCAGCCACAT GTGAGCTCCACAGTATCCACACCCCGCCAGCCACACAGCGAGCCCCACGG TAACCACGCCTTGGCCAGCCACACAGAGAGCCCCACGGTAACCACGCCTT GGCCAGCCACACA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0003 a0007c0005t0003	a0007c0005t0003g0006 a0007c0005t0003g0006	1	25	0.0400	212	c.510 others(229): Show c.510+4582_510+4583insTGTGTGGCTGGCCAAGGCGTGGTTACCG TGGGGCTCTCTGTGTGGCTGGCCAAGGCGTGGTTACCGTGGGGCTCGCTG TGTGGCTGGCGGGGTGTGGATACTGTGGAGCTCACATGTGGCTGGCCGGG GCGTGGTTACCGTGGGGCTCGCTGTGTGGCTGGCAGGGTGTGGTTACCAT GGGGCTGGCAGGGTGTGGATACTGTGGGGCTCAC	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	2/12			chrX	TogoVar
PPP6R2_chr22_50338327_50450090	50397547	A A	AGGGGGGC others(205): Show AGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGCATGACTTGGGATGGGGGCGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0006 a0001c0002t0022g0006	1	340	0.0029	212	c.227 others(229): Show c.227+3417_227+3418insGCCTGTCCTCACCAGCCTTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGCATGACTTGGG ATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar

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