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
PUS7_chr7_105451503_105527271	105456076	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	350	0.0029	22	c.17 others(33): Show c.1713_*1714insATATATATATATATATTTTTTT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		426		chr7	TogoVar
PUS7_chr7_105451503_105527271	105456102	T T	TATATATA others(15): Show TATATATATATATATAAATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	350	0.0029	22	c.16 others(33): Show c.1687_*1688insTTATATTTATATATATATATAT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		400		chr7	TogoVar
PUS7_chr7_105451503_105527271	105496218	T T	TAGAGAGA others(15): Show TAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	350	0.0029	22	c.731 others(37): Show c.731-966_731-965insCTCTCTCTCTCTCTCTCTCTCT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	5/15			chr7	TogoVar
PUS7_chr7_105451503_105527271	105505003	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0316 a0001c0001t0002g0316	1	350	0.0029	22	c.585 others(37): Show c.585+951_585+952insAAAAAAAAAAAAAAAAAAAAAA	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding	4/15			chr7	TogoVar
PWWP2A_chr5_160086339_160124450	160092013	G G	GATATATA others(15): Show GATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp2 HG01243.hp2 HG01255.hp2 others(30): Show HG00621.hp2 HG01243.hp2 HG01255.hp2 HG01891.hp2 HG01981.hp2 HG01993.hp2 HG02080.hp2 HG02258.hp2 HG02559.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG04184.hp2 NA18522.hp1 NA18906.hp1 NA18949.hp1 NA18956.hp1 NA18964.hp1 NA18993.hp1 NA19004.hp1 NA19007.hp2 NA19011.hp1 NA19055.hp1 NA19056.hp2 NA19068.hp1 NA19079.hp1 NA19083.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0004 a0001c0001t0014 a0001c0001t0023 others(3): Show a0001c0001t0004 a0001c0001t0014 a0001c0001t0023 a0001c0001t0036 a0001c0001t0045 a0001c0007t0004	a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0025 others(30): Show a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0025 a0001c0001t0004g0029 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0204 a0001c0001t0004g0220 a0001c0001t0004g0232 a0001c0001t0004g0234 a0001c0001t0004g0239 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0253 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0269 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0291 a0001c0001t0004g0301 a0001c0001t0004g0320 a0001c0001t0004g0335 a0001c0001t0014g0235 a0001c0001t0014g0254 a0001c0001t0014g0255 a0001c0001t0014g0270 a0001c0001t0023g0061 a0001c0001t0023g0197 a0001c0001t0036g0202 a0001c0001t0045g0062 a0001c0007t0004g0264 a0001c0007t0004g0282	33	384	0.0859	22	c.36 others(31): Show c.368_*369insATATATATATATATATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	2/2	368		chr5	TogoVar
PWWP2A_chr5_160086339_160124450	160109792	T T	TATATATA others(15): Show TATATATATAAAATAATATAATA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0371 a0001c0006t0003g0371	1	384	0.0026	22	c.584 others(39): Show c.584+9012_584+9013insTATTATATTATTTTATATATAT	PWWP2A	ENSG00000170234.13	transcript	ENST00000307063.9	protein_coding	1/1			chr5	TogoVar
PXDNL_chr8_51314577_51814445	51452935	A A	AACACATA others(15): Show AACACATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01496.hp1 HG01496.hp2 others(2): Show HG01243.hp1 HG01496.hp1 HG01496.hp2 HG02896.hp1 HG02897.hp2	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0008	a0001c0001 a0006c0007 a0007c0006 others(1): Show a0001c0001 a0006c0007 a0007c0006 a0008c0031	a0001c0001t0002 a0006c0007t0001 a0007c0006t0001 others(1): Show a0001c0001t0002 a0006c0007t0001 a0007c0006t0001 a0008c0031t0002	a0001c0001t0002g0102 a0006c0007t0001g0029 a0007c0006t0001g0045 others(2): Show a0001c0001t0002g0102 a0006c0007t0001g0029 a0007c0006t0001g0045 a0007c0006t0001g0046 a0008c0031t0002g0105	5	122	0.0410	22	c.124 others(39): Show c.1249+583_1249+584insGTGTGTGTGTGTGTGTATGTGT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	10/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51553771	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03130.hp2 HG01192.hp2 HG03130.hp2	a0003 a0016 a0003 a0016	a0003c0005 a0016c0016 a0003c0005 a0016c0016	a0003c0005t0003 a0016c0016t0001 a0003c0005t0003 a0016c0016t0001	a0003c0005t0003g0010 a0016c0016t0001g0075 a0003c0005t0003g0010 a0016c0016t0001g0075	2	122	0.0164	22	c.380 others(39): Show c.380+3068_380+3069insGTGTATATATATATATATATAT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51644406	A A	ATATGTAT others(15): Show ATATGTATATATATACATATGTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0016 a0002c0002t0003g0016	1	122	0.0082	22	c.236 others(41): Show c.236+10282_236+10283insCACATATGTATATATATACATA	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51683164	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0100 a0001c0010t0002g0100	1	122	0.0082	22	c.165 others(41): Show c.165-28426_165-28405dupATATATATATATATATATATAT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PXDN_chr2_1626887_1749515	1703720	G G	GACAGCTC others(15): Show GACAGCTCCAGGTGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0144 a0001c0002t0003g0144	1	322	0.0031	22	c.201 others(41): Show c.201-10587_201-10586insTCCTTCCTTCACCTGGAGCTGT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1704663	A A	AGGGGGGG others(15): Show AGGGGGGGCAGCTCCAGGTGAAG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0240	1	322	0.0031	22	c.201 others(41): Show c.201-11530_201-11529insCTTCACCTGGAGCTGCCCCCCC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1720229	G G	GAGAGAGA others(15): Show GAGAGAGAGGGAGGGAGGGATGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp1 HG01255.hp2 others(10): Show HG00639.hp1 HG01099.hp1 HG01255.hp2 HG01361.hp1 HG01515.hp2 HG02451.hp2 HG02486.hp2 HG02809.hp1 HG02922.hp1 HG02965.hp2 HG03209.hp2 HG03579.hp1 NA20805.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0012c0045	a0001c0001t0002 a0001c0001t0015 a0001c0002t0003 others(7): Show a0001c0001t0002 a0001c0001t0015 a0001c0002t0003 a0001c0002t0032 a0001c0003t0001 a0001c0003t0002 a0001c0004t0004 a0001c0005t0007 a0001c0006t0013 a0012c0045t0006	a0001c0001t0002g0287 a0001c0001t0015g0037 a0001c0002t0003g0051 others(10): Show a0001c0001t0002g0287 a0001c0001t0015g0037 a0001c0002t0003g0051 a0001c0002t0032g0288 a0001c0003t0001g0282 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0002g0286 a0001c0004t0004g0305 a0001c0004t0004g0311 a0001c0005t0007g0160 a0001c0006t0013g0309 a0012c0045t0006g0062	13	322	0.0404	22	c.200 others(41): Show c.200+24026_200+24027insGCATCCCTCCCTCCCTCTCTCT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXDN_chr2_1626887_1749515	1731152	G G	GCGCGCAC others(15): Show GCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0288 a0001c0002t0032g0288	1	322	0.0031	22	c.200 others(41): Show c.200+13103_200+13104insTGTGTGTGTGTGTGTGTGCGCG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
PXT1_chr6_36385551_36447854	36425803	A A	AACAAACA others(15): Show AACAAACAAACAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0363 a0001c0001t0009g0363	1	390	0.0026	22	c.169 others(37): Show c.169+110_169+111insATTTTTTTTTTTGTTTGTTTGT	PXT1	ENSG00000179165.12	transcript	ENST00000454782.3	protein_coding	3/4			chr6	TogoVar
PYCARD_chr16_31196486_31207760	31205946	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	354	0.0028	22	c.-32 others(33): Show c.-3257_-3256insGAAAGAAAGAAAGAAAGAAAGA	PYCARD	ENSG00000103490.14	transcript	ENST00000247470.10	protein_coding		3187		chr16	TogoVar
PYDC2_chr3_191456163_191466456	191463000	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 NA19004.hp1 HG01358.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	434	0.0046	22	c.15 others(33): Show c.1544_*1545insTCTTTCTTTCTTTCTTTCTTTC	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1545		chr3	TogoVar
PYDC2_chr3_191456163_191466456	191463020	C C	CTCTCTTT others(15): Show CTCTCTTTCTCTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp1 NA18988.hp1 others(1): Show HG01257.hp2 HG01258.hp1 NA18988.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	4	434	0.0092	22	c.15 others(33): Show c.1564_*1565insTCTCTTTCTCTCTTTCTTTCTT	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1565		chr3	TogoVar
PYDC2_chr3_191456163_191466456	191463020	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00741.hp2 HG01071.hp2 others(20): Show HG00423.hp2 HG00741.hp2 HG01071.hp2 HG01884.hp2 HG01993.hp2 HG02055.hp1 HG02056.hp1 HG02145.hp1 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG03209.hp1 NA18522.hp2 NA18941.hp2 NA18954.hp1 NA18969.hp2 NA18979.hp2 NA18998.hp2 NA19000.hp1 NA19030.hp2 NA19058.hp1 NA19064.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	23	434	0.0530	22	c.15 others(33): Show c.1564_*1565insTTTCTTTCTTTCTTTCTTTCTT	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1565		chr3	TogoVar
PYDC2_chr3_191456163_191466456	191463106	C C	CCTCCCTC others(15): Show CCTCCCTCCCTCCCTCCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	434	0.0023	22	c.16 others(33): Show c.1650_*1651insCTCCCTCCCTCCCTCCCTCCCT	PYDC2	ENSG00000253548.1	transcript	ENST00000518817.1	protein_coding		1651		chr3	TogoVar
PYGO1_chr15_55533884_55593345	55576760	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01952.hp1 HG02055.hp2 others(4): Show HG00438.hp1 HG01952.hp1 HG02055.hp2 HG03195.hp2 HG06807.hp2 NA18963.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 a0001c0001t0076	a0001c0001t0001g0347 a0001c0001t0010g0133 a0001c0001t0010g0134 others(4): Show a0001c0001t0001g0347 a0001c0001t0010g0133 a0001c0001t0010g0134 a0001c0001t0010g0135 a0001c0001t0010g0136 a0001c0001t0015g0293 a0001c0001t0076g0392	7	412	0.0170	22	c.49+ others(39): Show c.49+11074_49+11075insTTTTTTTTTTTTTTTTTTTTTT	PYGO1	ENSG00000171016.13	transcript	ENST00000563719.4	protein_coding	1/2			chr15	TogoVar
PYURF_chr4_88515998_88528776	88516483	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	1	446	0.0022	22	c.54 others(33): Show c.5404_*5405insTTTTTTTTTTTTTTTTTTTTTT	PYURF	ENSG00000145337.5	transcript	ENST00000273968.5	protein_coding		4514		chr4	TogoVar
PYY_chr17_43947733_43958940	43958135	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02572.hp1 HG02615.hp2 others(3): Show HG02258.hp1 HG02572.hp1 HG02615.hp2 HG02809.hp2 HG02922.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0003 a0003c0003t0001g0005 a0001c0001t0001g0003 a0003c0003t0001g0005	6	364	0.0165	22	c.-43 others(33): Show c.-4308_-4287dupTTTTTTTTTTTTTTTTTTTTTT	PYY	ENSG00000131096.11	transcript	ENST00000692052.1	protein_coding		4196		chr17	TogoVar
QARS1_chr3_49090932_49109757	49096798	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	284	0.0035	22	c.227 others(39): Show c.2278-741_2278-720dupTTTTTTTTTTTTTTTTTTTTTT	QARS1	ENSG00000172053.18	transcript	ENST00000306125.12	protein_coding	23/23			chr3	TogoVar
QDPR_chr4_17481395_17517090	17497512	T T	TATTATCT others(15): Show TATTATCTCAATATAATTATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02280.hp1 others(11): Show HG01243.hp2 HG01891.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0001 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0011 a0001c0001t0001g0051 a0001c0001t0001g0052 others(5): Show a0001c0001t0001g0011 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0007g0219 a0001c0001t0008g0158	14	406	0.0345	22	c.436 others(39): Show c.436+4206_436+4207insTATATAATTATATTGAGATAAT	QDPR	ENSG00000151552.13	transcript	ENST00000281243.10	protein_coding	4/6			chr4	TogoVar
QRFPR_chr4_121323642_121386018	121323977	C C	CATATATA others(15): Show CATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02080.hp1 NA18612.hp2 others(7): Show HG02040.hp2 HG02080.hp1 NA18612.hp2 NA18940.hp1 NA18947.hp2 NA18979.hp1 NA18988.hp2 NA18997.hp1 NA18998.hp1 NA19087.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0009 a0001c0001t0019 a0003c0004t0006 a0001c0001t0009 a0001c0001t0019 a0003c0004t0006	a0001c0001t0009g0021 a0001c0001t0009g0248 a0001c0001t0009g0249 others(6): Show a0001c0001t0009g0021 a0001c0001t0009g0248 a0001c0001t0009g0249 a0001c0001t0009g0268 a0001c0001t0019g0078 a0001c0001t0019g0121 a0003c0004t0006g0343 a0003c0004t0006g0347 a0003c0004t0006g0350	10	384	0.0260	22	c.53 others(33): Show c.5336_*5337insATATATATATATATATATATAT	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding		4664		chr4	TogoVar
QRFPR_chr4_121323642_121386018	121380186	G G	GGAGAGAG others(15): Show GGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18944.hp2 HG03225.hp1 NA18944.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0151 a0002c0002t0001g0152	2	384	0.0052	22	c.340 others(37): Show c.340+100_340+121dupTCTCTCTCTCTCTCTCTCTCTC	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5			chr4	TogoVar
QRFPR_chr4_121323642_121386018	121380186	G G	GGAGAGAG others(15): Show GGAGAGAGAGGGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02074.hp2 NA18747.hp2 others(3): Show HG01515.hp2 HG02074.hp2 NA18747.hp2 NA18988.hp1 NA19056.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 others(3): Show a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321	6	384	0.0156	22	c.340 others(37): Show c.340+121_340+122insTCTCTCTCTCTCCCTCTCTCTC	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5			chr4	TogoVar
QRICH1_chr3_49024707_49099071	49050248	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	226	0.0044	22	c.133 others(41): Show c.1339-3024_1339-3003dupTTTTTTTTTTTTTTTTTTTTTT	QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding	3/9			chr3	TogoVar
QRICH1_chr3_49024707_49099071	49096798	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	226	0.0044	22	c.-29 others(33): Show c.-2930_-2909dupTTTTTTTTTTTTTTTTTTTTTT	QRICH1	ENSG00000198218.12	transcript	ENST00000395443.7	protein_coding		2728		chr3	TogoVar
QRICH2_chr17_76269049_76313276	76287043	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01952.hp1 HG01981.hp1 others(3): Show HG01109.hp1 HG01952.hp1 HG01981.hp1 HG02004.hp2 HG03490.hp1 NA18950.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0003 a0003c0033 a0001c0005 a0003c0003 a0003c0033	a0001c0005t0001 a0003c0003t0001 a0003c0033t0001 a0001c0005t0001 a0003c0003t0001 a0003c0033t0001	a0001c0005t0001g0195 a0003c0003t0001g0182 a0003c0003t0001g0191 others(3): Show a0001c0005t0001g0195 a0003c0003t0001g0182 a0003c0003t0001g0191 a0003c0003t0001g0210 a0003c0003t0001g0212 a0003c0033t0001g0199	6	364	0.0165	22	c.401 others(39): Show c.4011+127_4011+148dupGTGTGTGTGTGTGTGTGTGTGT	QRICH2	ENSG00000129646.16	transcript	ENST00000680821.2	protein_coding	7/18			chr17	TogoVar
QSER1_chr11_32887811_32985270	32964717	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG04199.hp2 HG03041.hp1 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0020 a0001c0002t0004 a0001c0002t0020	a0001c0002t0004g0228 a0001c0002t0020g0233 a0001c0002t0004g0228 a0001c0002t0020g0233	2	236	0.0085	22	c.497 others(41): Show c.4970-1581_4970-1560dupTATATATATATATATATATATA	QSER1	ENSG00000060749.17	transcript	ENST00000650167.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
QSER1_chr11_32887811_32985270	32965944	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0064 a0001c0001t0014g0064	1	236	0.0042	22	c.497 others(39): Show c.4970-335_4970-314dupACACACACACACACACACACAC	QSER1	ENSG00000060749.17	transcript	ENST00000650167.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
QTRT2_chr3_114051737_114093422	114056298	A A	AGACGGGC others(15): Show AGACGGGCCGCGACTGGCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	430	0.0023	22	c.-69 others(31): Show c.-696_-695insGACGGGCCGCGACTGGCTTCCT	QTRT2	ENSG00000151576.10	transcript	ENST00000281273.8	protein_coding		438		chr3	TogoVar
QTRT2_chr3_114051737_114093422	114082204	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	430	0.0023	22	c.899 others(37): Show c.899-445_899-424dupACACACACACACACACACACAC	QTRT2	ENSG00000151576.10	transcript	ENST00000281273.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
R3HCC1L_chr10_98129657_98249897	98183958	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03516.hp1 HG02451.hp1 HG03516.hp1	a0003 a0006 a0003 a0006	a0003c0012 a0006c0007 a0003c0012 a0006c0007	a0003c0012t0003 a0006c0007t0003 a0003c0012t0003 a0006c0007t0003	a0003c0012t0003g0159 a0006c0007t0003g0231 a0003c0012t0003g0159 a0006c0007t0003g0231	2	388	0.0052	22	c.-15 others(41): Show c.-15+20576_-15+20577insTTTTTTTTTTTTTTTTTTTTTT	R3HCC1L	ENSG00000166024.14	transcript	ENST00000298999.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
R3HDM2_chr12_57248764_57436043	57260263	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03927.hp2 HG03654.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0282 a0001c0001t0001g0213 a0001c0001t0001g0282	2	336	0.0060	22	c.213 others(41): Show c.2132-1226_2132-1205dupTTTTTTTTTTTTTTTTTTTTTT	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	19/23			chr12	TogoVar
R3HDM2_chr12_57248764_57436043	57360006	A A	AATAAATA others(15): Show AATAAATAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp1 HG02896.hp1 others(1): Show HG02615.hp1 HG02717.hp1 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0013 a0001c0005 a0001c0013	a0001c0005t0004 a0001c0005t0008 a0001c0013t0004 a0001c0005t0004 a0001c0005t0008 a0001c0013t0004	a0001c0005t0004g0142 a0001c0005t0004g0144 a0001c0005t0008g0146 others(1): Show a0001c0005t0004g0142 a0001c0005t0004g0144 a0001c0005t0008g0146 a0001c0013t0004g0145	4	336	0.0119	22	c.-36 others(41): Show c.-36+35742_-36+35743insATATATATATATATTTATTTAT	R3HDM2	ENSG00000179912.21	transcript	ENST00000402412.6	protein_coding	2/23			chr12	TogoVar
R3HDM4_chr19_891503_918219	911465	T T	TAACCAAT others(15): Show TAACCAATAAAACATTAACGATA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0002 a0010c0009t0002	a0010c0009t0002g0143 a0010c0009t0002g0143	1	432	0.0023	22	c.71+ others(37): Show c.71+1600_71+1621dupTATCGTTAATGTTTTATTGGTT	R3HDM4	ENSG00000198858.10	transcript	ENST00000361574.10	protein_coding	1/7			chr19	TogoVar
RAB10_chr2_26029084_26142454	26138991	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0083 a0001c0001t0005g0083	1	212	0.0047	22	c.39 others(33): Show c.3970_*3971insAAAAAAAAAAAAAAAAAAAAAA	RAB10	ENSG00000084733.11	transcript	ENST00000264710.5	protein_coding		1538		chr2	TogoVar
RAB11FIP1_chr8_37853618_37904497	37894725	T T	TATATATA others(15): Show TATATATATACATATATATATAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0025 a0025	a0025c0048 a0025c0048	a0025c0048t0018 a0025c0048t0018	a0025c0048t0018g0195 a0025c0048t0018g0195	1	264	0.0038	22	c.371 others(39): Show c.371+4345_371+4346insGTATATATATATGTATATATAT	RAB11FIP1	ENSG00000156675.16	transcript	ENST00000330843.9	protein_coding	1/5			chr8	TogoVar
RAB11FIP1_chr8_37853618_37904497	37895218	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	264	0.0038	22	c.371 others(39): Show c.371+3831_371+3852dupATATATATATATATATATATAT	RAB11FIP1	ENSG00000156675.16	transcript	ENST00000330843.9	protein_coding	1/5			chr8	TogoVar
RAB11FIP2_chr10_117999916_118051941	118024470	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0104	1	400	0.0025	22	c.126 others(41): Show c.1266-9382_1266-9361dupACACACACACACACACACACAC	RAB11FIP2	ENSG00000107560.12	transcript	ENST00000355624.8	protein_coding	3/4			chr10	TogoVar
RAB11FIP3_chr16_420649_528011	467481	C C	CGTCAGGG others(15): Show CGTCAGGGAGGAGGTGCAGGGAA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0039 a0001c0017t0039	a0001c0017t0039g0112 a0001c0017t0039g0112	1	295	0.0034	22	c.809 others(39): Show c.809-3794_809-3793insAAGTCAGGGAGGAGGTGCAGGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	467498	A A	AGGGGCGT others(15): Show AGGGGCGTCAGGGAGGAGGTGCG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0021 a0001c0001t0025g0021	1	295	0.0034	22	c.809 others(39): Show c.809-3775_809-3754dupGGGGGCGTCAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	467525	C C	CGTCAGGG others(15): Show CGTCAGGGAGGAGGTGCAGGGAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03041.hp1 HG02257.hp2 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0008 a0001c0006 a0001c0008	a0001c0006t0058 a0001c0008t0057 a0001c0006t0058 a0001c0008t0057	a0001c0006t0058g0111 a0001c0008t0057g0113 a0001c0006t0058g0111 a0001c0008t0057g0113	2	295	0.0068	22	c.809 others(39): Show c.809-3750_809-3749insAAGTCAGGGAGGAGGTGCAGGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	467568	A A	ACGTCAGG others(15): Show ACGTCAGGGAGGAGGTGCAGGGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00609.hp1 others(40): Show HG00323.hp1 HG00544.hp2 HG00609.hp1 HG00642.hp2 HG01258.hp2 HG01981.hp1 HG02027.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02559.hp1 HG02735.hp2 HG02738.hp2 HG03704.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18955.hp2 NA18957.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18990.hp2 NA18994.hp1 NA19004.hp1 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19074.hp1 NA19080.hp2 NA19088.hp1 NA19090.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0013	a0001c0001 a0001c0002 a0001c0011 others(3): Show a0001c0001 a0001c0002 a0001c0011 a0002c0003 a0009c0009 a0013c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0002t0005 a0001c0011t0002 a0002c0003t0007 a0009c0009t0003 a0013c0020t0005	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0140 others(40): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0140 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0078 a0001c0001t0003g0076 a0001c0001t0003g0125 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0202 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0216 a0001c0001t0003g0235 a0001c0001t0003g0252 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0004g0018 a0001c0001t0004g0074 a0001c0001t0005g0014 a0001c0001t0007g0016 a0001c0001t0007g0047 a0001c0001t0007g0048 a0001c0001t0007g0134 a0001c0001t0007g0137 a0001c0001t0007g0237 a0001c0001t0008g0071 a0001c0001t0008g0077 a0001c0001t0011g0132 a0001c0001t0045g0138 a0001c0001t0046g0131 a0001c0001t0047g0139 a0001c0002t0005g0070 a0001c0002t0005g0075 a0001c0002t0005g0079 a0001c0011t0002g0019 a0002c0003t0007g0095 a0002c0003t0007g0096 a0009c0009t0003g0130 a0013c0020t0005g0013	43	295	0.1458	22	c.809 others(39): Show c.809-3710_809-3709insAGGGGCGTCAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	467746	C C	CTCAGGGA others(15): Show CTCAGGGAGGAGGTGCAGGGGCG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01109.hp2 NA18612.hp2 others(1): Show HG00558.hp1 HG01109.hp2 NA18612.hp2 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0028 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0028 a0001c0001t0042	a0001c0001t0003g0180 a0001c0001t0005g0066 a0001c0001t0028g0091 others(1): Show a0001c0001t0003g0180 a0001c0001t0005g0066 a0001c0001t0028g0091 a0001c0001t0042g0085	4	295	0.0136	22	c.809 others(39): Show c.809-3533_809-3512dupAGGGGCGTCAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	468088	A A	AGGGGCGT others(15): Show AGGGGCGTCAGGGAGGAGGTGCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02145.hp1 others(4): Show HG01891.hp1 HG02055.hp2 HG02145.hp1 HG02630.hp2 HG02647.hp2 HG02818.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 others(1): Show a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0023	a0001c0001t0010g0032 a0001c0001t0010g0046 a0001c0001t0011g0110 others(4): Show a0001c0001t0010g0032 a0001c0001t0010g0046 a0001c0001t0011g0110 a0001c0001t0012g0030 a0001c0001t0012g0031 a0001c0001t0012g0104 a0001c0001t0023g0103	7	295	0.0237	22	c.809 others(39): Show c.809-3201_809-3180dupGTCAGGGAGGAGGTGCTGGGGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	468110	T T	TGGGGCCT others(15): Show TGGGGCCTCAGGGAGGAGGTGCA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18982.hp2 NA18970.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0165 a0001c0001t0001g0115 a0001c0001t0001g0165	2	295	0.0068	22	c.809 others(39): Show c.809-3135_809-3114dupCTCAGGGAGGAGGTGCAGGGGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar

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