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
LYPD8_chr1_248734415_248760759	248742461	C C	CGGGGGAG others(206): Show CGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCCGGGGAGATTATGC TCTGGTGGGGATGTTGGCAGCGGGGGAGATTACGCTCTGGTGGGGATGTT GGCAGCCGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCCGGGGAGA TTATGCTCTGGTGGGGATGTTGGCAGTCGGGGGAGATTATGCTCTGGTGG GGATGTTGGCAGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG03492.hp1 others(8): Show HG00323.hp2 HG00423.hp2 HG03492.hp1 HG03831.hp2 HG04184.hp2 NA18962.hp2 NA18967.hp1 NA18973.hp1 NA19066.hp2 NA19085.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0106 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0256	11	374	0.0294	213	c.476 others(230): Show c.476-2613_476-2612insCACTGCCAACATCCCCACCAGAGCATAA TCTCCCCCGACTGCCAACATCCCCACCAGAGCATAATCTCCCCGGCTGCC AACATCCCCACCAGAGCATAATCTCCCCCGGCTGCCAACATCCCCACCAG AGCGTAATCTCCCCCGCTGCCAACATCCCCACCAGAGCATAATCTCCCCG GCTGCCAACATCCCCACCAGAGCATAATCTCCCCC	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
MAN2B2_chr4_6570189_6628362	6579162	C C	CCACCACC others(206): Show CCACCACCACCACCACCACCACCACCATCACCATCACCAGCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAT CACCATCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA TCACCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACC ATCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0110 a0002c0002t0004g0110	1	362	0.0028	213	c.391 others(228): Show c.391+681_391+682insCCACCACCATCACCATCACCAGCACCACCA CCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ATCACCATCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCATCA CCATCACCACCACCATCACCACCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(206): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGAG AGGGGGGAGGGGGGAGGGGGGAGAGGGGAGAGGGGAGAGGGGGGAGGGGG GAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGG GGGGAGAGGGGGAGGGGGGGGAGGGGGAGGGGGGAGGGGGGGAGAGGGGG GAGGGGGGAGAGGG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0016 a0016	a0016c0013 a0016c0013	a0016c0013t0001 a0016c0013t0001	a0016c0013t0001g0102 a0016c0013t0001g0102	1	163	0.0061	213	c.525 others(230): Show c.525+8627_525+8628insCCCTCTCCCCCCTCCCCCCTCTCCCCCC CTCCCCCCTCCCCCTCCCCCCCCTCCCCCTCTCCCCCCTCCCCCCTCTCC CCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTC TCCCCTCTCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCTCCC CCCTCCCCCCCTCTCCCCCTCTCCCCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19477908	G G	GGGGGGAG others(206): Show GGGGGGAGAGGGGGGAGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGG AGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGGAGGGGGAGGGGGGA GGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGG GGGGAGGGGGGAGGGGGGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGAG AGGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	163	0.0061	213	c.525 others(230): Show c.525+8573_525+8574insTCCCCCTCCCCCCTCTCCCCCTCTCCCC CCTCCCCCCTCTCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCC CCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCT CCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCTC CCCCCTCTCCCCCCTCCCCCTCCCCCCTCTCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MARCHF1_chr4_163519718_164389019	163894732	C C	CATATATA others(206): Show CATATATATATATGCATGTGATGCATATATATATGCATGTGATGCATATA TATATGCATGTGATGCATATATATATATATGCATGTGATGCATATATATA TATATGCATGTGATGCATATATATATATATGCATGTGATGCATATATATA TATATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATA TGCATGTGATGCAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0040 a0001c0001t0022g0040	1	102	0.0098	213	c.-38 others(232): Show c.-38-40564_-38-40563insATGCATCACATGCATATATATATATG CATCACATGCATATATATATATGCATCACATGCATATATATATATATGCA TCACATGCATATATATATATATGCATCACATGCATATATATATATATGCA TCACATGCATATATATATATATGCATCACATGCATATATATATGCATCAC ATGCATATATATATGCATCACATGCATATATATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MYDGF_chr19_4652545_4675342	4663576	C C	CAGCCTCC others(206): Show CAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTC CAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAATCTA CCCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAATCTACCCTCCC CACCCACCCCATCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCAC CCCATCCTCATTCT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0049 a0002c0003t0002g0049	1	410	0.0024	213	c.287 others(230): Show c.287+1299_287+1300insAGAATGAGGATGGGGTGGGTGGGGAGGG TAGATTGGAGGCTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTG GAGGCTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTG TAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATG AGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYNN_chr3_169768396_169794716	169771338	A A	AATTATGT others(206): Show AATTATGTTTATATATCATAAATATAAAAAATTATGTTTATATATCATAA ATATAAAAAATTATGTTTATATATCATAAATATAAAAAATTATGTTTATA TATCATAAATATATAAAAATTTATGTTTATATATAATAAATATATAAAAA TTTATGTTTATATATAATAAATATATAAAAATTTATGTTTATATATAATA AATATATAAAAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0068 a0001c0001t0005g0068	1	350	0.0029	213	c.-21 others(224): Show c.-2156_-2155insATTATGTTTATATATCATAAATATAAAAAATTAT GTTTATATATCATAAATATAAAAAATTATGTTTATATATCATAAATATAA AAAATTATGTTTATATATCATAAATATATAAAAATTTATGTTTATATATA ATAAATATATAAAAATTTATGTTTATATATAATAAATATATAAAAATTTA TGTTTATATATAATAAATATATAAAAATT	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2057		chr3	TogoVar
MYNN_chr3_169768396_169794716	169771338	A A	AATTATGT others(206): Show AATTATGTTTATATATCATAAATATAAAAAATTATGTTTATATATCATAA ATATAAAAAATTATGTTTATATATCATAAATATAAAAATTTATGTTTATA TATCATAAATATATAAAAATTTATGTTTATATATAATAAATATATAAAAA TTTATGTTTATATATAATAAATATATAAAAATTTATGTTTATATATAATA AATATATAAAAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG03471.hp1 HG02818.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	2	350	0.0057	213	c.-21 others(224): Show c.-2156_-2155insATTATGTTTATATATCATAAATATAAAAAATTAT GTTTATATATCATAAATATAAAAAATTATGTTTATATATCATAAATATAA AAATTTATGTTTATATATCATAAATATATAAAAATTTATGTTTATATATA ATAAATATATAAAAATTTATGTTTATATATAATAAATATATAAAAATTTA TGTTTATATATAATAAATATATAAAAATT	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2057		chr3	TogoVar
MYT1L_chr2_1784113_2336275	2083750	G G	GGGGAGGG others(206): Show GGGGAGGGAGACCACTCCATCAGTAAGCCCATGTGCTGATGACTTCCTAT ACTCATTTTAGTATAGACTGAGAGGGCTAACAAGGAAAGGAAAGTTCAGT TCTTAGAGGGGAGGGAGACCACTCCATCAGTAAGCCCATGTGCTGATGAC TTTCTATACTCATTTTAGTGTAGACCGAGAAGGCTACTAAGGAACAGAAA ATTCAGTTCTTAGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0066 a0001c0004t0012g0066	1	104	0.0096	213	c.-30 others(234): Show c.-303-29840_-303-29628dupTCTAAGAACTGAATTTTCTGTTCC TTAGTAGCCTTCTCGGTCTACACTAAAATGAGTATAGAAAGTCATCAGCA CATGGGCTTACTGATGGAGTGGTCTCCCTCCCCTCTAAGAACTGAACTTT CCTTTCCTTGTTAGCCCTCTCAGTCTATACTAAAATGAGTATAGGAAGTC ATCAGCACATGGGCTTACTGATGGAGTGGTCTCCCTCCC	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	3/24			chr2	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(206): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCC CTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCC TTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCTC TCCCCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02735.hp2 HG03239.hp2 HG02602.hp2 HG02735.hp2 HG03239.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0025 a0001c0005t0003g0050 a0001c0005t0003g0200 a0001c0005t0003g0025 a0001c0005t0003g0050 a0001c0005t0003g0200	3	223	0.0135	213	c.289 others(230): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCC CCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTCCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NCK2_chr2_105739912_105899272	105807767	T T	TCTCCCTC others(206): Show TCTCCCTCCCTCCCTCCCTTCTCTCCCTCCCTCCCTCCCTTCCCTCTATC CCTCCCTCCCTTCCCTCTATCCCTCCCTCCCTCCCTCCCTTCTCTCTCTC CCTCCCTCCCTTCTATCTCTCCCTCCCTCCCTCCCTTCTATCTCTCCCTC CCTCCCTCCCTCCCTTCTCTCCCTCCCTCCCTCCCTTCCCTCTATCCCTC CCTCCCTTCTCTCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	334	0.0030	213	c.-20 others(232): Show c.-200-8639_-200-8638insCCTCCCTCCCTCCCTTCCCTCTATCC CTCCCTCCCTTCCCTCTATCCCTCCCTCCCTCCCTCCCTTCTCTCTCTCC CTCCCTCCCTTCTATCTCTCCCTCCCTCCCTCCCTTCTATCTCTCCCTCC CTCCCTCCCTCCCTTCTCTCCCTCCCTCCCTCCCTTCCCTCTATCCCTCC CTCCCTTCTCTCCCTCCCTCCCTCCCTCCCTTCTCTC	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TTATATAA others(206): Show TTATATAATATATTATATATTATATAATATATATTATATAATATATAATA TATTATATAATATATATTATATAATATATAATATATTATATAATATATAT TATATAATATATAATATATATTATATAATATATAATATATTATATAATAT ATATTATATAATATATAATATATAATATATATTATATAATATATAATATA TTATATAATATATA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0041 a0002c0002t0023g0041	1	348	0.0029	213	c.48+ others(228): Show c.48+1021_48+1022insATATAATATATTATATATTATATAATATAT ATTATATAATATATAATATATTATATAATATATATTATATAATATATAAT ATATTATATAATATATATTATATAATATATAATATATATTATATAATATA TAATATATTATATAATATATATTATATAATATATAATATATAATATATAT TATATAATATATAATATATTATATAATATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NDUFV3_chr21_42888309_42918299	42894408	A A	AATATATA others(206): Show AATATATAATATATTATATAAATATATATTATATAATATATAATATATTA TATAAATATATATTATATAATATATAATATATTATATAAATATATATAAT ATATAATATATTATATAAATATATATAATATATAATATATTATATAAATA TATATAATATATAATATATTATATAAATATATATAATATATAATATATTA TATAAATATATATT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0152 a0001c0001t0016g0152	1	348	0.0029	213	c.48+ others(228): Show c.48+1068_48+1069insATATATTATATAAATATATATTATATAATA TATAATATATTATATAAATATATATAATATATAATATATTATATAAATAT ATATAATATATAATATATTATATAAATATATATAATATATAATATATTAT ATAAATATATATAATATATAATATATTATATAAATATATATTATATATAA TATATTATATAAATATATATTATATAATATATA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NECAB2_chr16_83963244_84007776	83974991	C C	CGGGGATG others(206): Show CGGGGATGGGAACAGGTGTGCAGGGAGGTGTGGGTGCGGGGATGGGAACA GGTGTGCAGGGAGGTGGTGCGGGGATGGGAACAGGTGTGCAGGGAGGTGT GGGTGCAGGGATGGGAACAGGTGTGCAGGGAGGTGTGGGTGCGGGAATGT GAACCGGTGTGCAGGGAGGTGTGGGTGCAGGGATGGGAACAGGTGTGCAG GGAGGTGTGGGTGT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0020 a0003c0016t0020	a0003c0016t0020g0216 a0003c0016t0020g0216	1	354	0.0028	213	c.226 others(230): Show c.226+2819_226+2820insGATGGGAACAGGTGTGCAGGGAGGTGTG GGTGCGGGGATGGGAACAGGTGTGCAGGGAGGTGGTGCGGGGATGGGAAC AGGTGTGCAGGGAGGTGTGGGTGCAGGGATGGGAACAGGTGTGCAGGGAG GTGTGGGTGCGGGAATGTGAACCGGTGTGCAGGGAGGTGTGGGTGCAGGG ATGGGAACAGGTGTGCAGGGAGGTGTGGGTGTGGG	NECAB2	ENSG00000103154.10	transcript	ENST00000305202.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
NEXN_chr1_77883624_77948895	77887912	T T	TTTCTTCT others(206): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	268	0.0037	213	c.-90 others(222): Show c.-900_-899insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTC	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		711		chr1	TogoVar
NFATC2_chr20_51381963_51547719	51500818	A A	ACCACCCA others(206): Show ACCACCCACCACCCCCACCCTCACCCCCACCCCACCCTCACCCTCACCCC ACCCTCACCCTCACCCCCACCCCACCCTCACCCCCACTACCCCCACCCTC ACCCCACCCTCACCCCCACCCCACCCTCACCCTCACCCCACCCTCACCCT CACCCCCACCCCACCCCCACCCTCACCCTCACCCCCATCCTCACCCTCAC CCTCACCCCCACCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp1 HG03453.hp2 HG00642.hp2 HG01243.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0258 a0001c0001t0009g0244 a0001c0001t0009g0249 a0001c0001t0005g0258 a0001c0001t0009g0244 a0001c0001t0009g0249	3	316	0.0095	213	c.133 others(234): Show c.1332+15965_1332+15966insGGGTGGGGGTGAGGGTGAGGGTGA GGATGGGGGTGAGGGTGAGGGTGGGGGTGGGGTGGGGGTGAGGGTGAGGG TGGGGTGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGTGAGGGTGGGG GTAGTGGGGGTGAGGGTGGGGTGGGGGTGAGGGTGAGGGTGGGGTGAGGG TGAGGGTGGGGTGGGGGTGAGGGTGGGGGTGGTGGGTGG	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	3/10			chr20	TogoVar
NFILZ_chr19_8625633_8686151	8656289	C C	CAGCCCAC others(206): Show CAGCCCACCTCCTCCCTGAAGCCCACCTTCTCTCTGAAGCCCACCTCCTC CCGCAGCGCACCTCCTCCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTT CTCCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCTGAAGCCCA CCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCC CACCTTCTCTCTGA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0017 a0006c0006t0017	a0006c0006t0017g0287 a0006c0006t0017g0287	1	366	0.0027	213	c.-16 others(234): Show c.-163-18247_-163-18246insTGAAGCCCACCTTCTCTCTGAAGC CCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCCCACCTCTTCCCTGA AGCCCACCTTCTCCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCC CTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCACCTCT TTCCGCAGCCCACCTTCTCTCTGAAGCCCACCTCCTCCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8656289	C C	CAGCCCAC others(206): Show CAGCCCACCTCCTCCCTGAAGCCCACCTTCTCTCTGAAGCCCACCTCCTC CCGCAGCGCACCTCCTCCCTGAAGCCCACCTCTTCCCTGCAGCCCACCTT CTCTCTGAAGCCCACCTTCTCCCTGAAGCCCACCTTCTCCCGCAGCCCAC CTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTCGAAGCC CACCTTCTCTCTGA	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18747.hp1 HG02040.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0232 a0002c0002t0002g0268 a0002c0002t0002g0232 a0002c0002t0002g0268	2	366	0.0055	213	c.-16 others(234): Show c.-163-18247_-163-18246insTGAAGCCCACCTTCTCTCTGAAGC CCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCCCACCTCTTCCCTGC AGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCTGAAGCCCACCTTCTCC CGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCT CCTCGAAGCCCACCTTCTCTCTGAAGCCCACCTCCTCCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993508	C C	CCCCCCCT others(206): Show CCCCCCCTCTCCCCCCCCCTCCCCCACCTCTCCCCCCTCTCCCCCCCTCC CCCCTCCCCCCCTCCCCCCTCTCCCCCTCCCTCCCCCTCCCCCCTCTCCC CCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0015 a0005c0005t0015	a0005c0005t0015g0167 a0005c0005t0015g0167	1	350	0.0029	213	c.55 others(224): Show c.5595_*5596insCCCCCCTCTCCCCCCCCCTCCCCCACCTCTCCCC CCTCTCCCCCCCTCCCCCCTCCCCCCCTCCCCCCTCTCCCCCTCCCTCCC CCTCCCCCCTCTCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4880		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993508	C C	CCCCCCCT others(206): Show CCCCCCCTCTCCCCCCCCCTCCCCCACCTCTCCCCCCTCTCCCCCCCTCC CCCCTCCCCCCCTCCCCCCTCTCCCCCTCCCTCCCCCTCCCCCCTCTCCC CCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCTTCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0015 a0005c0005t0015	a0005c0005t0015g0171 a0005c0005t0015g0171	1	350	0.0029	213	c.55 others(224): Show c.5595_*5596insCCCCCCTCTCCCCCCCCCTCCCCCACCTCTCCCC CCTCTCCCCCCCTCCCCCCTCCCCCCCTCCCCCCTCTCCCCCTCCCTCCC CCTCCCCCCTCTCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCT TCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4880		chr19	TogoVar
NOP14_chr4_2932936_2968406	2961226	T T	TGTTAGTA others(206): Show TGTTAGTATAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATATATACTAACTATATTAATAATATAGTTAG TATATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18968.hp1 NA18966.hp2 NA18968.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0005 a0002c0002 a0007c0005	a0002c0002t0001 a0007c0005t0001 a0002c0002t0001 a0007c0005t0001	a0002c0002t0001g0252 a0007c0005t0001g0253 a0002c0002t0001g0252 a0007c0005t0001g0253	2	422	0.0047	213	c.195 others(230): Show c.195+1898_195+1899insTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATATACTAACTATATTATT AATATAGTTAGTATATATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTATACTAAC	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOP14_chr4_2932936_2968406	2961226	T T	TGTTAGTA others(206): Show TGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TAATATATAGTAACTATATTAATATATACTAACTATATTAATATAGTTAG TATATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	422	0.0024	213	c.195 others(230): Show c.195+1898_195+1899insTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATATACTAACTATATTAAT ATAGTTAGTATATATTAATATAGTTACTATATATTAATATACTAACTATA TTATTAATATAGTTACTATATATTAATATACTAAC	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(206): Show AAAAAAAAAAAAAGGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	208	0.0048	213	c.-10 others(234): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTCTTTCCTTTTTTTTTTTT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
OPTN_chr10_13095163_13143308	13115422	A A	ATATATAA others(206): Show ATATATAATATAGAATATATATAATATATTCTATATTATATAATATAGAA TATATATAATATATTCTATATTATATAATATAGAATATATATAATATATT CTATATTATATAATATAGAATATATATAATATATTCTATATTATATAATA TAGAATATATATAATAATATATTCTATATTATATAATATAGAATATATAT AATATATTCTATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0153 a0004c0008t0001g0153	1	418	0.0024	213	c.553 others(228): Show c.553-741_553-740insTTATATAATATAGAATATATATAATATATT CTATATTATATAATATAGAATATATATAATAATATATTCTATATTATATA ATATAGAATATATATAATATATTCTATATTATATAATATAGAATATATAT AATATATTCTATATTATATAATATAGAATATATATAATATATTCTATATT ATATAATATAGAATATATATAATATATTCTATA	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(206): Show CCGCAGAACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTA GTAGAGACGGGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG01069.hp2 others(20): Show HG00140.hp2 HG00735.hp1 HG01069.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02273.hp2 HG02300.hp1 HG02698.hp2 NA19074.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0005 a0001c0005t0015 others(1): Show a0001c0005t0003 a0001c0005t0005 a0001c0005t0015 a0001c0005t0021	a0001c0005t0003g0164 a0001c0005t0005g0005 a0001c0005t0005g0015 others(8): Show a0001c0005t0003g0164 a0001c0005t0005g0005 a0001c0005t0005g0015 a0001c0005t0005g0018 a0001c0005t0005g0019 a0001c0005t0005g0036 a0001c0005t0005g0037 a0001c0005t0005g0069 a0001c0005t0015g0038 a0001c0005t0015g0070 a0001c0005t0021g0257	23	442	0.0520	213	c.55 others(224): Show c.5587_*5588insAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAGAGTTCTGCG	OR10G3	ENSG00000169208.3	transcript	ENST00000641040.1	protein_coding		4304		chr14	TogoVar
OR10G3_chr14_21563520_21585076	21564215	C C	CCGCAGAA others(206): Show CCGCAGAACTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTA GTAGAGACGGGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0015 a0001c0005t0005g0015	1	442	0.0023	213	c.55 others(224): Show c.5587_*5588insAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAGAGTTCTGCG	OR10G3	ENSG00000169208.3	transcript	ENST00000641040.1	protein_coding		4304		chr14	TogoVar
OR4F5_chr1_60419_76585	66249	A A	ATATATAA others(206): Show ATATATAATATATATTATATATATTATATATATTATATATATTATATATA TATTATATATATAATATATATAATATATATAATATAATATATTTTATATA TATATAATATATTATATAATATAATATATATATTATATATATAATATATA TATAATATAATATAATATAATATATTATATTATATAATATATGATATAAA TATAATATATATTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0052 a0003c0004t0003g0052	1	215	0.0047	213	c.9+6 others(224): Show c.9+678_9+679insTATAATATATATTATATATATTATATATATTATA TATATTATATATATATTATATATATAATATATATAATATATATAATATAA TATATTTTATATATATATAATATATTATATAATATAATATATATATTATA TATATAATATATATATAATATAATATAATATAATATATTATATTATATAA TATATGATATAAATATAATATATATTTTA	OR4F5	ENSG00000186092.7	transcript	ENST00000641515.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR4F5_chr1_60419_76585	66249	A A	ATATATTA others(206): Show ATATATTATATATATTATATATATTATATATATTATATATATTATATATA TATTATATATATAATATATATAATATATATAATATAATATATTTTATATA TATATAATATATTATATAATATAATATATATATTATATATATAATATATA TATAATATAATATAATATAATATATTATATTATATAATATATGATATAAA TATAATATATATTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA20752.hp1 HG02145.hp2 NA20752.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0054 a0003c0004t0003g0055 a0003c0004t0003g0054 a0003c0004t0003g0055	2	215	0.0093	213	c.9+6 others(224): Show c.9+678_9+679insTATTATATATATTATATATATTATATATATTATA TATATTATATATATATTATATATATAATATATATAATATATATAATATAA TATATTTTATATATATATAATATATTATATAATATAATATATATATTATA TATATAATATATATATAATATAATATAATATAATATATTATATTATATAA TATATGATATAAATATAATATATATTTTA	OR4F5	ENSG00000186092.7	transcript	ENST00000641515.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
P2RY8_chrX_1457581_1542185	1468987	T T	TCCCCTCT others(206): Show TCCCCTCTCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTC CCCTCCCCTTCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTTCC CTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCT CTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCT CCCCTCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0012 a0001c0001t0031g0012	1	114	0.0088	213	c.-24 others(230): Show c.-24-2406_-24-2405insGGAGGGGAGAGGGGAGAGGGAAGGGGAG GGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGG GAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGA GAGGGGAGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGG AAGGGGAGGGGAGAGGGGAGAGGGAAGGAGAGGGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(206): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCC CTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCT CCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19030.hp1 HG01891.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0023 a0001c0001t0009 a0001c0001t0023	a0001c0001t0009g0213 a0001c0001t0023g0207 a0001c0001t0009g0213 a0001c0001t0023g0207	2	308	0.0065	213	c.226 others(232): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCTTCCTC CCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCC CCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCT CCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PARVB_chr22_44019302_44177939	44019386	A A	ATTTTTGT others(206): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTAC CACGCCCGGCTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	332	0.0030	213	c.-49 others(224): Show c.-4954_-4953insTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCTACCACGCCCGGCTAAT	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding		4915		chr22	TogoVar
PCDHGA1_chr5_141325514_141517975	141407491	A A	ATTTCTGT others(206): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0258 a0003c0004t0001g0258	1	268	0.0037	213	c.242 others(234): Show c.2421+74400_2421+74401insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA2_chr5_141333760_141517975	141407491	A A	ATTTCTGT others(206): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	272	0.0037	213	c.242 others(234): Show c.2424+66110_2424+66111insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA2	ENSG00000081853.15	transcript	ENST00000394576.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA3_chr5_141338829_141517975	141407491	A A	ATTTCTGT others(206): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0038 a0003c0003t0001g0038	1	270	0.0037	213	c.242 others(234): Show c.2424+61048_2424+61049insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA3	ENSG00000254245.3	transcript	ENST00000253812.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA4_chr5_141350021_141517975	141407491	A A	ATTTCTGT others(206): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0238 a0002c0002t0001g0238	1	274	0.0037	213	c.251 others(234): Show c.2514+49884_2514+49885insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA4	ENSG00000262576.3	transcript	ENST00000571252.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA5_chr5_141359162_141517975	141407491	A A	ATTTCTGT others(206): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	292	0.0034	213	c.242 others(234): Show c.2421+40754_2421+40755insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA5	ENSG00000253485.3	transcript	ENST00000518069.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA6_chr5_141368891_141517975	141407491	A A	ATTTCTGT others(206): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0267 a0001c0002t0001g0267	1	292	0.0034	213	c.242 others(234): Show c.2424+30998_2424+30999insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA6	ENSG00000253731.3	transcript	ENST00000517434.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA7_chr5_141377742_141517975	141407491	A A	ATTTCTGT others(206): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	292	0.0034	213	c.242 others(234): Show c.2424+22182_2424+22183insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA7	ENSG00000253537.3	transcript	ENST00000518325.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA8_chr5_141387633_141517975	141407491	A A	ATTTCTGT others(206): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	302	0.0033	213	c.242 others(234): Show c.2424+12268_2424+12269insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA8	ENSG00000253767.3	transcript	ENST00000398604.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA9_chr5_141397778_141517975	141407491	A A	ATTTCTGT others(206): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0281 a0001c0005t0001g0281	1	302	0.0033	213	c.242 others(232): Show c.2424+2129_2424+2130insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA9	ENSG00000261934.3	transcript	ENST00000573521.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB1_chr5_141345099_141517975	141407491	A A	ATTTCTGT others(206): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0021 a0002c0004t0001g0021	1	278	0.0036	213	c.240 others(234): Show c.2409+54836_2409+54837insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB1	ENSG00000254221.3	transcript	ENST00000523390.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB2_chr5_141354994_141517975	141407491	A A	ATTTCTGT others(206): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0266 a0003c0003t0001g0266	1	288	0.0035	213	c.242 others(234): Show c.2421+44949_2421+44950insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB2	ENSG00000253910.3	transcript	ENST00000522605.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB3_chr5_141365242_141517975	141407491	A A	ATTTCTGT others(206): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0273 a0003c0003t0001g0273	1	296	0.0034	213	c.241 others(234): Show c.2415+34696_2415+34697insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB3	ENSG00000262209.3	transcript	ENST00000576222.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB4_chr5_141382698_141517975	141407491	A A	ATTTCTGT others(206): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	294	0.0034	213	c.239 others(234): Show c.2397+17224_2397+17225insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB4	ENSG00000253953.3	transcript	ENST00000519479.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB5_chr5_141392947_141517975	141407491	A A	ATTTCTGT others(206): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0017 a0004c0005t0002g0017	1	300	0.0033	213	c.239 others(232): Show c.2397+6981_2397+6982insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB5	ENSG00000276547.2	transcript	ENST00000617380.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB6_chr5_141403021_141517975	141407491	A A	ATTTCTGT others(206): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0209 a0002c0003t0001g0209	1	302	0.0033	213	c.-71 others(222): Show c.-712_-711insTTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA CTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAT GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC CACTACGCCCGGCTAATTTTTTGCATT	PCDHGB6	ENSG00000253305.3	transcript	ENST00000520790.2	protein_coding		529		chr5	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(206): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCACTTCCC CTCCCTCTCCCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCCCTC CCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCCCCTCCC CACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0189 a0001c0002t0001g0189	1	336	0.0030	213	c.-37 others(224): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGG GGAGGGGATGGGGGAGGGGAGGGGGAGGGGGAGGGGGGAGGGGATGAGGG AGGGGGAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PDIA2_chr16_278164_292215	285983	T T	TCCCAACC others(206): Show TCCCAACCCCGCGGTTCTCCCAACCCCACGGTTCTCCCAACCCCAACCCC GCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCC CAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGC GGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCC GCGGTTCTCCCAAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18959.hp2 HG01934.hp2 NA18959.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0020 a0010c0018t0001g0054 a0010c0018t0001g0020 a0010c0018t0001g0054	2	436	0.0046	213	c.111 others(230): Show c.1119+307_1119+308insCGGTTCTCCCAACCCCAACCCCGCGGTT CTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCC CAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCT CCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTT CTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCA	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(206): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAAAAAAGAAAGAAAG AAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0173 a0002c0002t0001g0173	1	342	0.0029	213	c.20- others(228): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTCTTTTTTT CTTTTCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PERM1_chr1_970198_987093	977728	A A	ACCAACCC others(206): Show ACCAACCCCGGGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTC CCACCACCCCGCCAACCCCGAGAACCGCCTCCCACGACCCCCAATCCCGG GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCC CCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACCACCCCG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0018 a0010c0013t0018	a0010c0013t0018g0210 a0010c0013t0018g0210	1	408	0.0025	213	c.215 others(232): Show c.2150-1105_2150-1104insCGGGGTGGTGGGAGGCGGTTCCCGGG GTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGATTGGGG GTCGTGGGAGGCGGTTCTCGGGGTTGGCGGGGTGGTGGGAGGCGGTTCCC GGGATTGGGGGTCGTGGGAGGCGGTTCCCGGGGTTGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar

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