Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PDS5A_chr4_39817863_39982911	39826473	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01099.hp1 HG01109.hp2 others(25): Show HG01069.hp2 HG01099.hp1 HG01109.hp2 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02080.hp1 HG02486.hp2 HG02630.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG03017.hp1 HG03098.hp2 HG03492.hp2 HG04115.hp2 NA18942.hp2 NA18947.hp1 NA18972.hp2 NA18979.hp1 NA18979.hp2 NA19009.hp1 NA19043.hp2 NA19055.hp2 NA19058.hp2 NA19065.hp2 NA19074.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 others(8): Show a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0019 a0001c0002t0022 a0001c0010t0007	a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0178 others(25): Show a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0196 a0001c0001t0002g0268 a0001c0001t0006g0232 a0001c0001t0006g0235 a0001c0001t0006g0237 a0001c0001t0006g0238 a0001c0002t0002g0216 a0001c0002t0002g0218 a0001c0002t0002g0221 a0001c0002t0002g0226 a0001c0002t0003g0147 a0001c0002t0003g0149 a0001c0002t0004g0346 a0001c0002t0004g0352 a0001c0002t0005g0206 a0001c0002t0005g0212 a0001c0002t0005g0255 a0001c0002t0005g0281 a0001c0002t0005g0300 a0001c0002t0008g0308 a0001c0002t0008g0310 a0001c0002t0009g0066 a0001c0002t0019g0120 a0001c0002t0022g0298 a0001c0010t0007g0111	28	356	0.0787	20	c.401 others(38): Show c.4011-1005_4011-986dupTAAATAAATAAATAAATAAA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	32/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39842903	C C	CCATATAT others(13): Show CCATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0155 a0001c0002t0003g0155	1	356	0.0028	20	c.354 others(37): Show c.3549-848_3549-847insTATATATATATATATATATG	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39842903	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02293.hp1 HG02602.hp2 others(6): Show HG02074.hp1 HG02293.hp1 HG02602.hp2 HG04115.hp2 NA18944.hp2 NA18954.hp1 NA18974.hp2 NA18977.hp2 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0219 a0001c0002t0004g0315 a0001c0002t0004g0321 others(6): Show a0001c0002t0002g0219 a0001c0002t0004g0315 a0001c0002t0004g0321 a0001c0002t0004g0333 a0001c0002t0004g0334 a0001c0002t0004g0338 a0001c0002t0004g0343 a0001c0002t0004g0349 a0001c0002t0004g0352	9	356	0.0253	20	c.354 others(37): Show c.3549-848_3549-847insTATATATATATATATATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39842909	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG01074.hp1 others(18): Show HG00438.hp2 HG00673.hp2 HG01074.hp1 HG01192.hp1 HG01975.hp1 HG02109.hp1 HG02273.hp1 HG02559.hp1 HG03669.hp1 HG03704.hp1 HG04228.hp1 NA18612.hp2 NA18945.hp1 NA18948.hp2 NA18950.hp2 NA18984.hp2 NA19012.hp1 NA19068.hp1 NA19085.hp1 NA20129.hp1 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0011 a0001c0001 a0001c0002 a0004c0011	a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 a0004c0011t0006	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0059 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0004g0324 a0001c0002t0003g0161 a0004c0011t0006g0236	21	356	0.0590	20	c.354 others(37): Show c.3549-873_3549-854dupTATATATATATATATATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39842937	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0007 a0001c0013t0007	a0001c0013t0007g0109 a0001c0013t0007g0109	1	356	0.0028	20	c.354 others(37): Show c.3549-882_3549-881insAATATATATATATATATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39909040	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01081.hp1 HG01106.hp1 others(23): Show HG00609.hp2 HG01081.hp1 HG01106.hp1 HG01257.hp2 HG01258.hp1 HG02015.hp2 HG02071.hp1 HG02080.hp2 HG02300.hp2 HG02559.hp2 HG02735.hp2 HG02965.hp2 HG03017.hp2 HG04199.hp1 NA18943.hp1 NA18948.hp1 NA18949.hp2 NA18956.hp1 NA18966.hp2 NA18992.hp1 NA19000.hp2 NA19001.hp2 NA19058.hp2 NA19065.hp1 NA19070.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0002t0005 a0001c0001t0002 a0001c0002t0003 a0001c0002t0005	a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0189 others(23): Show a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0195 a0001c0002t0003g0115 a0001c0002t0003g0116 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0126 a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0003g0136 a0001c0002t0003g0137 a0001c0002t0003g0142 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0152 a0001c0002t0003g0154 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0003g0167 a0001c0002t0003g0170 a0001c0002t0005g0202	26	356	0.0730	20	c.108 others(37): Show c.1088-520_1088-501dupATTTTATTTTATTTTATTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	10/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39923638	A A	AACACACA others(13): Show AACACACACACACAAACACAC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19000.hp1 NA19011.hp2 others(1): Show NA18943.hp2 NA19000.hp1 NA19011.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0261 a0001c0002t0005g0262 a0001c0002t0005g0263 others(1): Show a0001c0002t0005g0261 a0001c0002t0005g0262 a0001c0002t0005g0263 a0001c0002t0005g0265	4	356	0.0112	20	c.528 others(35): Show c.528-891_528-890insGTGTGTTTGTGTGTGTGTGT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	5/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39923638	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp2 HG01099.hp2 others(12): Show HG00741.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01175.hp2 HG01496.hp2 HG01928.hp1 HG01943.hp2 HG01981.hp1 HG02273.hp2 HG02895.hp2 HG03516.hp1 HG04204.hp1 NA18999.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0004t0001	a0001c0001t0001g0063 a0001c0001t0001g0104 a0001c0001t0002g0179 others(12): Show a0001c0001t0001g0063 a0001c0001t0001g0104 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0269 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0020g0270 a0001c0004t0001g0078	15	356	0.0421	20	c.528 others(35): Show c.528-910_528-891dupGTGTGTGTGTGTGTGTGTGT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	5/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39923640	C C	CACACACA others(13): Show CACACACACACAAACACACAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0222 a0001c0002t0002g0222	1	356	0.0028	20	c.528 others(35): Show c.528-893_528-892insTTGTGTGTTTGTGTGTGTGT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	5/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39929519	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02083.hp2 HG02647.hp1 others(2): Show HG01243.hp2 HG02083.hp2 HG02647.hp1 NA19080.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0033 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0055 a0001c0001t0015g0091	5	356	0.0140	20	c.139 others(37): Show c.139-1375_139-1356dupTATATATATATATATATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39929519	C C	CTCTATAT others(13): Show CTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0206 a0001c0002t0005g0206	1	356	0.0028	20	c.139 others(37): Show c.139-1356_139-1355insTATATATATATATATATAGA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39930246	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAGTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0129 a0001c0002t0010g0129	1	356	0.0028	20	c.139 others(37): Show c.139-2083_139-2082insAAAAACTTTTTTTTTTTTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39930246	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAGTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0141 a0001c0002t0003g0141	1	356	0.0028	20	c.139 others(37): Show c.139-2083_139-2082insAAAAAACTTTTTTTTTTTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39930246	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAGTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18963.hp1 NA18998.hp2 HG02027.hp1 NA18963.hp1 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0134 a0001c0002t0003g0138 a0001c0002t0003g0166 a0001c0002t0003g0134 a0001c0002t0003g0138 a0001c0002t0003g0166	3	356	0.0084	20	c.139 others(37): Show c.139-2083_139-2082insAAAAAAACTTTTTTTTTTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5A_chr4_39817863_39982911	39930246	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01515.hp1 HG00099.hp1 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0003 a0001c0009t0003 a0001c0002t0003 a0001c0009t0003	a0001c0002t0003g0150 a0001c0009t0003g0151 a0001c0002t0003g0150 a0001c0009t0003g0151	2	356	0.0056	20	c.139 others(37): Show c.139-2083_139-2082insAAAAAAAACTTTTTTTTTTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	2/32			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32635170	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	334	0.0030	20	c.-19 others(39): Show c.-19-13558_-19-13539dupTTTTTTTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG04184.hp2 NA20300.hp1 HG03579.hp1 HG04184.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0023 a0001c0001t0038 a0001c0001t0008 a0001c0001t0023 a0001c0001t0038	a0001c0001t0008g0311 a0001c0001t0023g0298 a0001c0001t0038g0309 a0001c0001t0008g0311 a0001c0001t0023g0298 a0001c0001t0038g0309	3	334	0.0090	20	c.313 others(37): Show c.313-2864_313-2863insATATATATATATTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	334	0.0030	20	c.313 others(37): Show c.313-2864_313-2863insATATATATTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32692414	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0295 a0001c0001t0016g0295	1	334	0.0030	20	c.147 others(39): Show c.1470-1809_1470-1808insTTTTTTTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	13/34			chr13	TogoVar
PDS5B_chr13_32581452_32783019	32733985	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp1 HG02698.hp1 others(5): Show HG01891.hp1 HG02572.hp1 HG02698.hp1 HG03209.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 others(3): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0001t0023 a0001c0002t0011	a0001c0001t0008g0301 a0001c0001t0008g0311 a0001c0001t0010g0109 others(5): Show a0001c0001t0008g0301 a0001c0001t0008g0311 a0001c0001t0010g0109 a0001c0001t0010g0112 a0001c0001t0012g0286 a0001c0001t0017g0303 a0001c0001t0023g0298 a0001c0002t0011g0283	8	334	0.0240	20	c.224 others(39): Show c.2248-1177_2248-1158dupCACACACACACACACACACA	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDSS1_chr10_26692701_26751798	26693079	T T	TTTTATAT others(13): Show TTTTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0254 a0001c0001t0005g0254	1	416	0.0024	20	c.-46 others(31): Show c.-4633_-4632insTTTATATATATATATATATA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4621		chr10	TogoVar
PDSS1_chr10_26692701_26751798	26704083	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01433.hp2 others(16): Show HG01168.hp1 HG01169.hp1 HG01433.hp2 HG02056.hp2 HG02080.hp2 HG02300.hp2 HG02698.hp2 HG03491.hp2 HG04115.hp2 NA18612.hp2 NA18947.hp2 NA18950.hp1 NA18956.hp2 NA18980.hp1 NA18980.hp2 NA18989.hp1 NA19075.hp2 NA19086.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 others(15): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0128 a0001c0001t0001g0173 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0002g0015	19	416	0.0457	20	c.163 others(35): Show c.163-575_163-574insAAAAAAAAAAAAAAAAAAAA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDSS2_chr6_107147562_107464564	107173572	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03130.hp2 HG02647.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0259 a0001c0001t0001g0061 a0001c0001t0001g0259	2	260	0.0077	20	c.104 others(41): Show c.1042-18815_1042-18796dupTTTTTTTTTTTTTTTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	7/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107173587	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAACAAAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	260	0.0039	20	c.104 others(41): Show c.1042-18811_1042-18810insGTTTGTTTTTTTTTTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	7/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107225135	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02897.hp2 others(2): Show HG02280.hp1 HG02451.hp2 HG02897.hp2 NA18977.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0162 a0001c0001t0001g0209 others(2): Show a0001c0001t0001g0142 a0001c0001t0001g0162 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0224	5	260	0.0192	20	c.703 others(39): Show c.703-12854_703-12853insTATATATATATATATATATA	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	4/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429899	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	260	0.0039	20	c.296 others(39): Show c.296+29090_296+29091insATATATATATATATATATAT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0101 a0001c0001t0005g0101	1	260	0.0039	20	c.296 others(39): Show c.296+29088_296+29089insATATATATATTTTTTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	260	0.0039	20	c.296 others(39): Show c.296+29088_296+29089insATATATATATATTTTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18955.hp1 NA18962.hp2 others(1): Show HG02809.hp2 NA18955.hp1 NA18962.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0001t0001 a0001c0001t0003 a0001c0001t0018	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0003g0099 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0003g0099 a0001c0001t0018g0260	4	260	0.0154	20	c.296 others(39): Show c.296+29088_296+29089insATATATATATATATTTTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	260	0.0039	20	c.296 others(39): Show c.296+29088_296+29089insATATATATATATATATTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107429901	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0079 a0001c0001t0004g0079	1	260	0.0039	20	c.296 others(39): Show c.296+29088_296+29089insATATATATATATATATATTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDXDC1_chr16_14970026_15043332	14984495	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01433.hp1 NA18960.hp1 others(1): Show HG01074.hp1 HG01433.hp1 NA18960.hp1 NA19055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0020 a0002c0002t0001 a0002c0002t0020	a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0095 others(1): Show a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0095 a0002c0002t0020g0085	4	279	0.0143	20	c.21+ others(35): Show c.21+9276_21+9277insATATATATATATATATATTT	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDXDC1_chr16_14970026_15043332	14984495	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0102	1	279	0.0036	20	c.21+ others(35): Show c.21+9276_21+9277insATATATATATATATTTTTTT	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDXDC1_chr16_14970026_15043332	14984495	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	279	0.0036	20	c.21+ others(35): Show c.21+9276_21+9277insATATATATATATTTTTTTTT	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDXDC1_chr16_14970026_15043332	15032668	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0018 a0001c0011t0018	a0001c0011t0018g0106 a0001c0011t0018g0106	1	279	0.0036	20	c.157 others(37): Show c.1572-192_1572-191insAAAAAAAAAAAAAAAAAAGA	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDXDC1_chr16_14970026_15043332	15042718	C C	CTATTTAT others(13): Show CTATTTATTTATTTATTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02647.hp1 HG02896.hp1 others(2): Show HG01081.hp1 HG02647.hp1 HG02896.hp1 NA18962.hp1 NA18978.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0009c0015 a0002c0002 a0009c0015	a0002c0002t0001 a0002c0002t0017 a0009c0015t0001 a0002c0002t0001 a0002c0002t0017 a0009c0015t0001	a0002c0002t0001g0015 a0002c0002t0001g0046 a0002c0002t0001g0093 others(2): Show a0002c0002t0001g0015 a0002c0002t0001g0046 a0002c0002t0001g0093 a0002c0002t0017g0094 a0009c0015t0001g0037	5	279	0.0179	20	c.64 others(31): Show c.6443_*6444insTATTTATTTATTTATTTATT	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding		4387		chr16	TogoVar
PDZD2_chr5_31634131_32115932	31689239	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0017 a0017	a0017c0048 a0017c0048	a0017c0048t0002 a0017c0048t0002	a0017c0048t0002g0062 a0017c0048t0002g0062	1	216	0.0046	20	c.-36 others(41): Show c.-361+49808_-361+49827dupGTGTGTGTGTGTGTGTGTGT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA21309.hp2 HG02896.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0003 a0001c0007 a0002c0003	a0001c0007t0047 a0002c0003t0002 a0001c0007t0047 a0002c0003t0002	a0001c0007t0047g0035 a0002c0003t0002g0197 a0001c0007t0047g0035 a0002c0003t0002g0197	2	216	0.0093	20	c.-36 others(41): Show c.-361+49917_-361+49918insATATATATATATATTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31752068	G G	GTTTTTTT others(13): Show GTTTTTTTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03041.hp2 HG02970.hp2 HG03041.hp2	a0001 a0008 a0001 a0008	a0001c0010 a0008c0014 a0001c0010 a0008c0014	a0001c0010t0015 a0008c0014t0001 a0001c0010t0015 a0008c0014t0001	a0001c0010t0015g0196 a0008c0014t0001g0159 a0001c0010t0015g0196 a0008c0014t0001g0159	2	216	0.0093	20	c.-36 others(41): Show c.-360-46821_-360-46820insTTTTTTTTTTGTTTTGTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24			chr5	TogoVar
PDZD2_chr5_31634131_32115932	31816287	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp2 HG01175.hp1 others(6): Show HG00738.hp1 HG01074.hp2 HG01175.hp1 HG01952.hp2 HG02451.hp1 HG03130.hp1 HG03239.hp1 HG03471.hp2 NA19030.hp1	a0001 a0004 a0028 others(1): Show a0001 a0004 a0028 a0029	a0001c0001 a0001c0005 a0001c0007 others(3): Show a0001c0001 a0001c0005 a0001c0007 a0004c0006 a0028c0051 a0029c0055	a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 others(5): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 a0001c0005t0001 a0001c0007t0009 a0004c0006t0007 a0028c0051t0008 a0029c0055t0028	a0001c0001t0001g0038 a0001c0001t0001g0083 a0001c0001t0008g0161 others(6): Show a0001c0001t0001g0038 a0001c0001t0001g0083 a0001c0001t0008g0161 a0001c0001t0017g0184 a0001c0005t0001g0091 a0001c0007t0009g0058 a0004c0006t0007g0179 a0028c0051t0008g0169 a0029c0055t0028g0054	9	216	0.0417	20	c.476 others(39): Show c.476+16578_476+16579insAAAAAAAAAAAAAAAAAAAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31872142	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18906.hp2 HG03098.hp2 NA18906.hp2	a0001 a0024 a0001 a0024	a0001c0050 a0024c0054 a0001c0050 a0024c0054	a0001c0050t0036 a0024c0054t0009 a0001c0050t0036 a0024c0054t0009	a0001c0050t0036g0148 a0024c0054t0009g0039 a0001c0050t0036g0148 a0024c0054t0009g0039	2	216	0.0093	20	c.476 others(39): Show c.476+72427_476+72446dupGTGTGTGTGTGTGTGTGTGT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31878555	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp1 HG02647.hp1 HG02257.hp1 HG02572.hp1 HG02647.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0036 a0007c0013 a0001c0001 a0001c0036 a0007c0013	a0001c0001t0001 a0001c0036t0019 a0007c0013t0001 a0001c0001t0001 a0001c0036t0019 a0007c0013t0001	a0001c0001t0001g0052 a0001c0036t0019g0211 a0007c0013t0001g0200 a0001c0001t0001g0052 a0001c0036t0019g0211 a0007c0013t0001g0200	3	216	0.0139	20	c.476 others(39): Show c.476+78836_476+78855dupTTTTTTTTTTTTTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31884227	G G	GCATACAT others(13): Show GCATACATACATACATACATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02818.hp1 HG03486.hp1 others(1): Show HG02647.hp2 HG02818.hp1 HG03486.hp1 NA19000.hp2	a0001 a0008 a0019 a0001 a0008 a0019	a0001c0001 a0001c0007 a0008c0014 others(1): Show a0001c0001 a0001c0007 a0008c0014 a0019c0046	a0001c0001t0020 a0001c0007t0009 a0008c0014t0004 others(1): Show a0001c0001t0020 a0001c0007t0009 a0008c0014t0004 a0019c0046t0014	a0001c0001t0020g0019 a0001c0007t0009g0142 a0008c0014t0004g0178 others(1): Show a0001c0001t0020g0019 a0001c0007t0009g0142 a0008c0014t0004g0178 a0019c0046t0014g0157	4	216	0.0185	20	c.476 others(39): Show c.476+84506_476+84507insACATACATACATACATACAT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31884231	G G	GCATACAT others(13): Show GCATACATACATACATACATA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0080 a0002c0011t0001g0080	1	216	0.0046	20	c.476 others(39): Show c.476+84519_476+84538dupACATACATACATACATACAT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31969509	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp2 NA18948.hp1 NA18948.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0005 a0001c0001t0001 a0003c0004t0005	a0001c0001t0001g0037 a0003c0004t0005g0031 a0001c0001t0001g0037 a0003c0004t0005g0031	2	216	0.0093	20	c.477 others(39): Show c.477-13639_477-13620dupAAAAAAAAAAAAAAAAAAAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	32025591	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02970.hp2 NA18906.hp1 others(1): Show HG01081.hp1 HG02970.hp2 NA18906.hp1 NA18944.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0022 a0005c0045 others(1): Show a0001c0001 a0001c0022 a0005c0045 a0008c0014	a0001c0001t0002 a0001c0022t0001 a0005c0045t0038 others(1): Show a0001c0001t0002 a0001c0022t0001 a0005c0045t0038 a0008c0014t0001	a0001c0001t0002g0075 a0001c0022t0001g0087 a0005c0045t0038g0176 others(1): Show a0001c0001t0002g0075 a0001c0022t0001g0087 a0005c0045t0038g0176 a0008c0014t0001g0159	4	216	0.0185	20	c.140 others(41): Show c.1408-11631_1408-11612dupTTTTTTTTTTTTTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD7_chr10_101002679_101036129	101017838	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19085.hp2 NA18966.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0090 a0001c0001t0004g0338 a0001c0001t0004g0090 a0001c0001t0004g0338	2	432	0.0046	20	c.152 others(37): Show c.1522+241_1522+260dupTTTCTTTCTTTCTTTCTTTC	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar
PDZD7_chr10_101002679_101036129	101017838	G G	GGAAGGAA others(13): Show GGAAGGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0309 a0002c0002t0003g0309	1	432	0.0023	20	c.152 others(37): Show c.1522+260_1522+261insTTTCTTTCTTTCTTTCCTTC	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar
PDZD7_chr10_101002679_101036129	101017838	G G	GGAAGGAA others(13): Show GGAAGGAAGGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0002 a0001c0022t0002	a0001c0022t0002g0358 a0001c0022t0002g0358	1	432	0.0023	20	c.152 others(37): Show c.1522+260_1522+261insTTTCTTTCTTTCCTTCCTTC	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar
PDZD7_chr10_101002679_101036129	101017892	A A	AAAGAAAG others(13): Show AAAGAAAGAAAGAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	432	0.0023	20	c.152 others(37): Show c.1522+206_1522+207insCTTTTCTTTCTTTCTTTCTT	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16			chr10	TogoVar

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