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

Sampleids

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
PSEN1_chr14_73131507_73228691	73140202	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18973.hp2 NA18951.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0317 a0001c0001t0002g0318	2	378	0.0053	-12	c.-13 others(31): Show c.-136+3634_-136+3645delTTTTTTTTTTTT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73158282	TTCTATCT others(5): Show TTCTATCTATCTA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02258.hp1 HG02258.hp2 others(3): Show HG01106.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02897.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0138 others(3): Show a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152	6	378	0.0159	-12	c.87+ others(29): Show c.87+10218_87+10229delCTATCTATCTAT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73202418	CTATATAT others(5): Show CTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	378	0.0027	-12	c.869 others(29): Show c.869-3934_869-3923delATATATATATAT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73212088	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01891.hp1 HG01069.hp2 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0369 a0001c0001t0005g0181 a0001c0001t0002g0369 a0001c0001t0005g0181	2	378	0.0053	-12	c.112 others(29): Show c.1129+176_1129+187delTTTTTTTTTTTT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73220306	GTGCTGTC others(5): Show GTGCTGTCAGCCC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18964.hp1 NA18980.hp2 NA18986.hp2 others(1): Show NA18964.hp1 NA18980.hp2 NA18986.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0178 a0001c0001t0012g0179 a0001c0001t0012g0184 others(1): Show a0001c0001t0012g0178 a0001c0001t0012g0179 a0001c0001t0012g0184 a0001c0001t0012g0188	4	378	0.0106	-12	c.10 others(23): Show c.1027_*1038delCCCTGCTGTCAG	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	12/12	1027	INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73226986	CAAGCACA others(5): Show CAAGCACAGTCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	378	0.0027	-12	c.76 others(23): Show c.7698_*7709delAAGCACAGTCTG	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding		3296		chr14	TogoVar
PSEN2_chr1_226865616_226901098	226899784	CCTCATGA others(5): Show CCTCATGACCTAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03098.hp1 HG03579.hp2 HG01891.hp1 HG03098.hp1 HG03579.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0024 a0001c0006t0002g0024	3	416	0.0072	-12	c.42 others(23): Show c.4206_*4217delCTCATGACCTAG	PSEN2	ENSG00000143801.18	transcript	ENST00000366783.8	protein_coding		3687		chr1	TogoVar
PSENEN_chr19_35740651_35752519	35743373	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(69): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG01123.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01517.hp2 HG01884.hp2 HG01981.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02258.hp1 HG02572.hp1 HG02683.hp1 HG02717.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03654.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18954.hp1 NA18956.hp2 NA18964.hp1 NA18969.hp2 NA18972.hp1 NA18979.hp1 NA18982.hp2 NA18987.hp1 NA19003.hp1 NA19010.hp1 NA19012.hp1 NA19066.hp1 NA19070.hp1 NA19083.hp1 NA19085.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0003g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0002t0001g0001	72	412	0.1748	-12	c.-24 others(23): Show c.-2423_-2412delAAAAAAAAAAAA	PSENEN	ENSG00000205155.8	transcript	ENST00000587708.7	protein_coding		2277		chr19	TogoVar
PSG2_chr19_43059209_43087701	43081350	GACACACA others(5): Show GACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03516.hp1 NA18964.hp2 HG03195.hp1 HG03516.hp1 NA18964.hp2	a0001 a0012 a0016 a0001 a0012 a0016	a0001c0001 a0012c0020 a0016c0018 a0001c0001 a0012c0020 a0016c0018	a0001c0001t0001 a0012c0020t0001 a0016c0018t0001 a0001c0001t0001 a0012c0020t0001 a0016c0018t0001	a0001c0001t0001g0222 a0012c0020t0001g0106 a0016c0018t0001g0158 a0001c0001t0001g0222 a0012c0020t0001g0106 a0016c0018t0001g0158	3	424	0.0071	-12	c.65- others(25): Show c.65-116_65-105delGTGTGTGTGTGT	PSG2	ENSG00000242221.9	transcript	ENST00000406487.6	protein_coding	1/5			chr19	TogoVar
PSG2_chr19_43059209_43087701	43082120	CTCTTTTT others(5): Show CTCTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00544.hp2 others(63): Show HG00140.hp1 HG00280.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG01074.hp2 HG01123.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02135.hp2 HG02280.hp2 HG02300.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03688.hp1 HG03831.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp2 NA18906.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18963.hp2 NA18971.hp2 NA18990.hp1 NA18991.hp1 NA19001.hp2 NA19003.hp1 NA19006.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19076.hp2 NA19088.hp2 NA19090.hp1 NA20300.hp2 NA20752.hp1	a0002 a0004 a0008 others(3): Show a0002 a0004 a0008 a0009 a0011 a0012	a0002c0002 a0002c0003 a0002c0016 others(5): Show a0002c0002 a0002c0003 a0002c0016 a0004c0005 a0008c0011 a0009c0010 a0011c0021 a0012c0020	a0002c0002t0001 a0002c0003t0001 a0002c0003t0003 others(7): Show a0002c0002t0001 a0002c0003t0001 a0002c0003t0003 a0002c0016t0001 a0004c0005t0001 a0004c0005t0008 a0008c0011t0001 a0009c0010t0005 a0011c0021t0001 a0012c0020t0001	a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0014 others(46): Show a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0014 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0091 a0002c0002t0001g0105 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0003t0001g0104 a0002c0003t0001g0107 a0002c0003t0001g0123 a0002c0003t0001g0124 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0003g0108 a0002c0003t0003g0109 a0002c0003t0003g0110 a0002c0003t0003g0111 a0002c0003t0003g0114 a0002c0016t0001g0119 a0004c0005t0001g0030 a0004c0005t0001g0079 a0004c0005t0001g0080 a0004c0005t0001g0081 a0004c0005t0001g0083 a0004c0005t0001g0084 a0004c0005t0001g0086 a0004c0005t0001g0087 a0004c0005t0008g0082 a0008c0011t0001g0085 a0008c0011t0001g0088 a0009c0010t0005g0074 a0009c0010t0005g0075 a0011c0021t0001g0116 a0012c0020t0001g0106	66	424	0.1557	-12	c.64+ others(25): Show c.64+374_64+385delAAAAAAAAAAGA	PSG2	ENSG00000242221.9	transcript	ENST00000406487.6	protein_coding	1/5			chr19	TogoVar
PSG2_chr19_43059209_43087701	43082122	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG02015.hp1 others(7): Show HG00280.hp2 HG00621.hp1 HG02015.hp1 HG02071.hp2 HG02080.hp2 HG02135.hp1 HG04204.hp1 NA18956.hp1 NA19000.hp2 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0013 a0001c0001t0001g0213 a0001c0001t0001g0214 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0002c0002t0001g0160	10	424	0.0236	-12	c.64+ others(25): Show c.64+372_64+383delAAAAAAAAAAAA	PSG2	ENSG00000242221.9	transcript	ENST00000406487.6	protein_coding	1/5			chr19	TogoVar
PSG2_chr19_43059209_43087701	43086171	CCTAGGGG others(5): Show CCTAGGGGCTGTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	424	0.0024	-12	c.-36 others(23): Show c.-3614_-3603delTACAGCCCCTAG	PSG2	ENSG00000242221.9	transcript	ENST00000406487.6	protein_coding		3471		chr19	TogoVar
PSG3_chr19_42716642_42745481	42736612	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00597.hp1 others(29): Show HG00099.hp2 HG00408.hp1 HG00597.hp1 HG00597.hp2 HG00741.hp2 HG01243.hp1 HG02071.hp2 HG02074.hp2 HG02155.hp2 HG02165.hp1 HG02280.hp1 HG02523.hp2 NA18947.hp2 NA18949.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18962.hp2 NA18963.hp1 NA18969.hp1 NA18981.hp1 NA18988.hp2 NA18993.hp2 NA18995.hp2 NA19003.hp2 NA19004.hp1 NA19012.hp1 NA19057.hp2 NA19066.hp1 NA19081.hp2 NA19088.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0021 others(13): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066	32	368	0.0870	-12	c.430 others(29): Show c.430+2100_430+2111delCACACACACACA	PSG3	ENSG00000221826.10	transcript	ENST00000327495.10	protein_coding	2/6			chr19	TogoVar
PSG4_chr19_43187702_43210638	43209097	TAGTGGCT others(5): Show TAGTGGCTGTACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00597.hp2 others(39): Show HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp2 HG01071.hp2 HG01256.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp2 HG02015.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp2 HG02615.hp1 HG02647.hp2 HG02922.hp2 HG02976.hp1 HG03130.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18950.hp2 NA18957.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18982.hp1 NA19030.hp2 NA19060.hp1 NA19086.hp1 NA20752.hp1 NA20905.hp1	a0002 a0014 a0018 others(1): Show a0002 a0014 a0018 a0019	a0002c0002 a0014c0020 a0018c0038 others(1): Show a0002c0002 a0014c0020 a0018c0038 a0019c0037	a0002c0002t0003 a0002c0002t0006 a0002c0002t0017 others(4): Show a0002c0002t0003 a0002c0002t0006 a0002c0002t0017 a0002c0002t0018 a0014c0020t0003 a0018c0038t0006 a0019c0037t0003	a0002c0002t0003g0001 a0002c0002t0003g0021 a0002c0002t0003g0162 others(22): Show a0002c0002t0003g0001 a0002c0002t0003g0021 a0002c0002t0003g0162 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0166 a0002c0002t0003g0167 a0002c0002t0003g0168 a0002c0002t0003g0170 a0002c0002t0003g0174 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0003g0181 a0002c0002t0003g0182 a0002c0002t0006g0171 a0002c0002t0006g0173 a0002c0002t0006g0175 a0002c0002t0017g0165 a0002c0002t0018g0172 a0014c0020t0003g0041 a0018c0038t0006g0183 a0019c0037t0003g0169	42	300	0.1400	-12	c.-35 others(23): Show c.-3573_-3562delGGTACAGCCACT	PSG4	ENSG00000243137.8	transcript	ENST00000405312.8	protein_coding		3460		chr19	TogoVar
PSG5_chr19_43162743_43191536	43171223	GGCTAATG others(5): Show GGCTAATGATGAT	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0003 a0010c0018t0003	a0010c0018t0003g0103 a0010c0018t0003g0103	1	430	0.0023	-12	c.965 others(29): Show c.965-1097_965-1086delATCATCATTAGC	PSG5	ENSG00000204941.14	transcript	ENST00000342951.11	protein_coding	4/5			chr19	TogoVar
PSG8_chr19_42749233_42770678	42765890	GACACACA others(5): Show GACACACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01975.hp2 NA18952.hp1 HG01192.hp2 HG01975.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0028	3	438	0.0069	-12	c.-32 others(21): Show c.-321_-310delGTGTGTGTGTGT	PSG8	ENSG00000124467.20	transcript	ENST00000306511.5	protein_coding		213		chr19	TogoVar
PSIP1_chr9_15459066_15515970	15473904	CAAAAAAA others(5): Show CAAAAAAAAAACA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03195.hp1 HG02970.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0002t0004g0052 a0001c0002t0004g0053	2	300	0.0067	-12	c.858 others(26): Show c.858+93_858+104delTGTTTTTTTTTT	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	9/15			chr9	TogoVar
PSIP1_chr9_15459066_15515970	15478127	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	300	0.0033	-12	c.629 others(27): Show c.629+338_629+349delTTTTTTTTTTTT	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	8/15			chr9	TogoVar
PSKH1_chr16_67888254_67934676	67891869	AAAAAATA others(5): Show AAAAAATAAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02451.hp1 others(19): Show HG01109.hp2 HG01884.hp1 HG02451.hp1 HG02559.hp1 HG02647.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG03041.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG04115.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0023 a0001c0001t0028 a0001c0001t0029	a0001c0001t0001g0090 a0001c0001t0001g0168 a0001c0001t0001g0171 others(15): Show a0001c0001t0001g0090 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0002g0016 a0001c0001t0003g0011 a0001c0001t0003g0024 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0008g0025 a0001c0001t0008g0166 a0001c0001t0008g0167 a0001c0001t0010g0172 a0001c0001t0010g0173 a0001c0001t0023g0162 a0001c0001t0028g0165 a0001c0001t0029g0025	22	230	0.0957	-12	c.-15 others(23): Show c.-1572_-1561delAAAAATAAAAAT	PSKH1	ENSG00000159792.10	transcript	ENST00000291041.6	protein_coding		1384		chr16	TogoVar
PSKH1_chr16_67888254_67934676	67893277	TGGCGGCG others(5): Show TGGCGGCGGCGGC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02622.hp1 HG02896.hp1 HG03195.hp2 others(4): Show HG02622.hp1 HG02896.hp1 HG03195.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013	a0001c0001t0006g0010 a0001c0001t0006g0145 a0001c0001t0006g0146 others(3): Show a0001c0001t0006g0010 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0148 a0001c0001t0009g0010 a0001c0001t0013g0147	7	230	0.0304	-12	c.-14 others(21): Show c.-149_-138delGGCGGCGGCGGC	PSKH1	ENSG00000159792.10	transcript	ENST00000291041.6	protein_coding	1/3	15446	INFO_REALIGN_3_PRIME	chr16	TogoVar
PSKH1_chr16_67888254_67934676	67915204	AGAGAGTG others(5): Show AGAGAGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03516.hp1 HG01884.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	2	230	0.0087	-12	c.957 others(29): Show c.957+5500_957+5511delAGAGTGTGTGTG	PSKH1	ENSG00000159792.10	transcript	ENST00000291041.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
PSKH2_chr8_86042109_86074668	86049675	GAAGAAAG others(5): Show GAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01109.hp1 HG01192.hp2 others(27): Show HG00597.hp1 HG01109.hp1 HG01192.hp2 HG02055.hp1 HG02273.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp1 HG03017.hp1 HG03139.hp1 HG03225.hp1 HG03486.hp2 HG03516.hp1 HG03710.hp1 HG03831.hp1 HG04204.hp2 NA18943.hp1 NA18961.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18983.hp1 NA18990.hp1 NA19057.hp1 NA19059.hp2 NA19070.hp1 NA19089.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0003c0005 a0003c0006	a0001c0001t0001 a0002c0002t0002 a0003c0004t0002 others(3): Show a0001c0001t0001 a0002c0002t0002 a0003c0004t0002 a0003c0004t0006 a0003c0005t0004 a0003c0006t0010	a0001c0001t0001g0001 a0001c0001t0001g0233 a0001c0001t0001g0246 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0233 a0001c0001t0001g0246 a0002c0002t0002g0022 a0002c0002t0002g0067 a0002c0002t0002g0178 a0002c0002t0002g0180 a0002c0002t0002g0184 a0002c0002t0002g0189 a0002c0002t0002g0197 a0002c0002t0002g0203 a0002c0002t0002g0215 a0002c0002t0002g0221 a0003c0004t0002g0270 a0003c0004t0006g0259 a0003c0004t0006g0261 a0003c0005t0004g0255 a0003c0006t0010g0265	30	420	0.0714	-12	c.853 others(27): Show c.853-920_853-909delTCTTTCTTTCTT	PSKH2	ENSG00000147613.8	transcript	ENST00000276616.3	protein_coding	2/2			chr8	TogoVar
PSKH2_chr8_86042109_86074668	86049738	GAAAGAAA others(5): Show GAAAGAAAGAAAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG01123.hp2 others(3): Show HG00099.hp2 HG00423.hp2 HG01123.hp2 HG02109.hp1 HG02965.hp2 HG03130.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0017 a0003c0006 a0001c0001 a0001c0017 a0003c0006	a0001c0001t0001 a0001c0017t0001 a0003c0006t0003 a0001c0001t0001 a0001c0017t0001 a0003c0006t0003	a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0123 others(3): Show a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0123 a0001c0001t0001g0218 a0001c0017t0001g0278 a0003c0006t0003g0257	6	420	0.0143	-12	c.853 others(27): Show c.853-983_853-972delGTTTCTTTCTTT	PSKH2	ENSG00000147613.8	transcript	ENST00000276616.3	protein_coding	2/2			chr8	TogoVar
PSKH2_chr8_86042109_86074668	86049742	GAAAGAAA others(5): Show GAAAGAAACGAAA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0090 a0004c0003t0001g0090	1	420	0.0024	-12	c.853 others(27): Show c.853-987_853-976delTTTCGTTTCTTT	PSKH2	ENSG00000147613.8	transcript	ENST00000276616.3	protein_coding	2/2			chr8	TogoVar
PSKH2_chr8_86042109_86074668	86049746	GAAACGAA others(5): Show GAAACGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0039 a0004c0003t0001g0039	2	420	0.0048	-12	c.853 others(27): Show c.853-991_853-980delTTTCTTTCGTTT	PSKH2	ENSG00000147613.8	transcript	ENST00000276616.3	protein_coding	2/2			chr8	TogoVar
PSMA6_chr14_35287382_35322493	35287417	GCTTCTTT others(5): Show GCTTCTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	-12	c.-50 others(23): Show c.-5059_-5048delCTTCTTTTTTTT	PSMA6	ENSG00000100902.11	transcript	ENST00000261479.9	protein_coding		4964		chr14	TogoVar
PSMA6_chr14_35287382_35322493	35312506	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp2 others(161): Show HG00099.hp1 HG00140.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp1 HG02965.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG04228.hp1 HG06807.hp1 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19089.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0002c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0024 others(90): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0144 a0001c0001t0001g0164 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0095 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0003t0002g0004 a0001c0003t0002g0240 a0002c0005t0001g0003	164	380	0.4316	-12	c.410 others(27): Show c.410-360_410-349delAAAAAAAAAAAA	PSMA6	ENSG00000100902.11	transcript	ENST00000261479.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA6_chr14_35287382_35322493	35314947	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	380	0.0026	-12	c.683 others(27): Show c.683+518_683+529delGTGTGTGTGTGT	PSMA6	ENSG00000100902.11	transcript	ENST00000261479.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA6_chr14_35287382_35322493	35316385	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	380	0.0026	-12	c.684 others(27): Show c.684-857_684-846delAAAAAAAAAAAA	PSMA6	ENSG00000100902.11	transcript	ENST00000261479.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA8_chr18_26128869_26198355	26163213	GTATATAT others(5): Show GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02004.hp2 HG02451.hp1 others(12): Show HG01928.hp1 HG02004.hp2 HG02451.hp1 HG02647.hp1 HG02723.hp2 HG02965.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18954.hp1 NA18957.hp1 NA18964.hp2 NA19064.hp2 NA19082.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0001g0140 a0001c0001t0001g0151 others(11): Show a0001c0001t0001g0019 a0001c0001t0001g0140 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0001g0225 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0002g0007	15	268	0.0560	-12	c.477 others(29): Show c.477+5007_477+5018delATATATATATAT	PSMA8	ENSG00000154611.15	transcript	ENST00000415576.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
PSMA8_chr18_26128869_26198355	26186248	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01192.hp2 HG02145.hp1 others(13): Show HG01175.hp2 HG01192.hp2 HG02145.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02615.hp2 HG02723.hp1 HG02897.hp1 HG02976.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03516.hp1 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0013 others(12): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026	16	268	0.0597	-12	c.661 others(29): Show c.661-6053_661-6042delAAAAAAAAAAAA	PSMA8	ENSG00000154611.15	transcript	ENST00000415576.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
PSMB2_chr1_35594541_35646526	35642214	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02083.hp1 HG02451.hp2 others(5): Show HG01243.hp1 HG02083.hp1 HG02451.hp2 HG04115.hp1 NA18992.hp1 NA19078.hp1 NA19079.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0018 a0001c0001t0021 others(1): Show a0001c0001t0008 a0001c0001t0018 a0001c0001t0021 a0001c0001t0034	a0001c0001t0008g0250 a0001c0001t0008g0253 a0001c0001t0008g0256 others(5): Show a0001c0001t0008g0250 a0001c0001t0008g0253 a0001c0001t0008g0256 a0001c0001t0008g0259 a0001c0001t0018g0251 a0001c0001t0018g0257 a0001c0001t0021g0010 a0001c0001t0034g0242	8	300	0.0267	-12	c.-79 others(21): Show c.-794_-783delTTTTTTTTTTTT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding		689		chr1	TogoVar
PSMB3_chr17_38747741_38769225	38755682	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19054.hp2 NA18955.hp2 NA19054.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0222 a0002c0002t0001g0089 a0001c0001t0001g0222 a0002c0002t0001g0089	2	431	0.0046	-12	c.189 others(27): Show c.189-178_189-167delTGTGTGTGTGTG	PSMB3	ENSG00000277791.5	transcript	ENST00000619426.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
PSMB5_chr14_23020856_23039900	23036217	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp2 others(76): Show HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01243.hp1 HG01261.hp2 HG01515.hp1 HG01884.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG01993.hp2 HG02109.hp2 HG02129.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03654.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18944.hp1 NA18949.hp1 NA18952.hp1 NA18961.hp2 NA18964.hp1 NA18977.hp1 NA18981.hp2 NA18984.hp2 NA18994.hp2 NA18998.hp1 NA19030.hp2 NA19055.hp2 NA19068.hp2 NA19079.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(23): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0003g0059 a0002c0002t0001g0019 a0002c0002t0001g0043	79	404	0.1955	-12	c.-13 others(23): Show c.-1348_-1337delCACACACACACA	PSMB5	ENSG00000100804.19	transcript	ENST00000361611.11	protein_coding		1318		chr14	TogoVar
PSMB6_chr17_4791164_4803495	4794937	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01256.hp2 HG01975.hp2 others(16): Show HG00733.hp1 HG01256.hp2 HG01975.hp2 HG02004.hp2 HG02027.hp2 HG02109.hp2 HG02129.hp1 NA18747.hp2 NA18940.hp2 NA18946.hp1 NA18953.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18971.hp1 NA18989.hp1 NA18998.hp1 NA19011.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0004 a0001c0001t0001g0006	19	454	0.0419	-12	c.-12 others(23): Show c.-1257_-1246delAAAAAAAAAAAA	PSMB6	ENSG00000142507.10	transcript	ENST00000270586.8	protein_coding		1226		chr17	TogoVar
PSMB7_chr9_124348465_124420442	124413153	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01943.hp2 HG01123.hp1 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0146 a0001c0001t0001g0147	2	408	0.0049	-12	c.255 others(27): Show c.255-673_255-662delTTTTTTTTTTTT	PSMB7	ENSG00000136930.13	transcript	ENST00000259457.8	protein_coding	3/7			chr9	TogoVar
PSMC1_chr14_90251553_90280429	90274787	TACACACA others(5): Show TACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp2 HG02818.hp2 NA18966.hp1 HG02622.hp2 HG02818.hp2 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0076 a0001c0002t0084 a0001c0002t0089 a0001c0002t0076 a0001c0002t0084 a0001c0002t0089	a0001c0002t0076g0014 a0001c0002t0084g0093 a0001c0002t0089g0023 a0001c0002t0076g0014 a0001c0002t0084g0093 a0001c0002t0089g0023	3	390	0.0077	-12	c.24 others(23): Show c.2421_*2432delACACACACACAC	PSMC1	ENSG00000100764.14	transcript	ENST00000261303.13	protein_coding	11/11	2421	INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMC2_chr7_103342643_103374395	103352215	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18984.hp2 NA19079.hp1 HG01891.hp2 NA18984.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258	3	382	0.0079	-12	c.71- others(27): Show c.71-1686_71-1675delAAAAAAAAAAAA	PSMC2	ENSG00000161057.13	transcript	ENST00000292644.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
PSMC3_chr11_47413775_47431439	47421249	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02970.hp2 HG02258.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	2	380	0.0053	-12	c.885 others(27): Show c.885-534_885-523delTTTTTTTTTTTT	PSMC3	ENSG00000165916.9	transcript	ENST00000298852.8	protein_coding	8/11			chr11	TogoVar
PSMC5_chr17_63822431_63837019	63836500	GAAAAAAA others(5): Show GAAAAAAAAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	358	0.0028	-12	c.45 others(23): Show c.4532_*4543delAAAAAAAAAAAA	PSMC5	ENSG00000087191.14	transcript	ENST00000310144.11	protein_coding		4482		chr17	TogoVar
PSMC6_chr14_52702200_52733590	52720367	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	398	0.0025	-12	c.778 others(27): Show c.778-475_778-464delAAAAAAAAAAAA	PSMC6	ENSG00000100519.12	transcript	ENST00000445930.7	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMD12_chr17_67332916_67371577	67356557	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02970.hp1 HG02486.hp2 HG02559.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0020 a0001c0006t0032 a0001c0001t0020 a0001c0006t0032	a0001c0001t0020g0157 a0001c0001t0020g0159 a0001c0006t0032g0158 a0001c0001t0020g0157 a0001c0001t0020g0159 a0001c0006t0032g0158	3	398	0.0075	-12	c.297 others(27): Show c.297+734_297+745delTTTTTTTTTTTT	PSMD12	ENSG00000197170.10	transcript	ENST00000356126.8	protein_coding	3/10			chr17	TogoVar
PSMD13_chr11_231976_257984	255986	CATGGATG others(5): Show CATGGATGGATGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01433.hp2 HG01884.hp1 others(22): Show HG01346.hp2 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02630.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03225.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp1 NA18522.hp1 NA18952.hp1 NA19030.hp1 NA19240.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0064 a0001c0001t0001g0124 a0001c0001t0001g0150 others(20): Show a0001c0001t0001g0064 a0001c0001t0001g0124 a0001c0001t0001g0150 a0001c0001t0001g0259 a0001c0001t0001g0267 a0001c0001t0001g0363 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0191 a0001c0001t0005g0234 a0001c0001t0005g0278 a0001c0001t0005g0360 a0001c0001t0005g0361 a0001c0001t0005g0364 a0001c0001t0005g0365 a0001c0001t0005g0366 a0001c0001t0005g0368 a0001c0001t0005g0369 a0001c0001t0005g0370 a0001c0001t0005g0371 a0001c0001t0005g0372 a0001c0001t0005g0373 a0001c0001t0005g0375	25	450	0.0556	-12	c.33 others(23): Show c.3387_*3398delATGGATGGATGG	PSMD13	ENSG00000185627.19	transcript	ENST00000532097.6	protein_coding		3003		chr11	TogoVar
PSMD13_chr11_231976_257984	256211	TGGACGGA others(5): Show TGGACGGACGGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02886.hp2 HG02922.hp1 others(2): Show HG02717.hp2 HG02886.hp2 HG02922.hp1 HG03710.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0002c0002t0001	a0001c0001t0001g0188 a0001c0001t0001g0199 a0001c0001t0010g0060 others(2): Show a0001c0001t0001g0188 a0001c0001t0001g0199 a0001c0001t0010g0060 a0001c0001t0011g0051 a0002c0002t0001g0316	5	450	0.0111	-12	c.36 others(23): Show c.3612_*3623delGGACGGACGGAC	PSMD13	ENSG00000185627.19	transcript	ENST00000532097.6	protein_coding		3228		chr11	TogoVar
PSMD13_chr11_231976_257984	256247	CGGACGGA others(5): Show CGGACGGACGGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02055.hp2 others(15): Show HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02280.hp2 HG02559.hp1 HG02630.hp2 HG02647.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03453.hp2 HG03516.hp2 HG03579.hp1 NA18522.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0005 a0001c0001t0005 a0002c0002t0005	a0001c0001t0005g0023 a0001c0001t0005g0043 a0001c0001t0005g0044 others(12): Show a0001c0001t0005g0023 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0191 a0001c0001t0005g0234 a0001c0001t0005g0278 a0001c0001t0005g0360 a0001c0001t0005g0365 a0001c0001t0005g0366 a0001c0001t0005g0369 a0001c0001t0005g0370 a0001c0001t0005g0371 a0001c0001t0005g0372 a0001c0001t0005g0375 a0002c0002t0005g0329	18	450	0.0400	-12	c.36 others(23): Show c.3648_*3659delGGACGGACGGAT	PSMD13	ENSG00000185627.19	transcript	ENST00000532097.6	protein_coding		3264		chr11	TogoVar
PSMD13_chr11_231976_257984	256251	CGGACGGA others(5): Show CGGACGGATGGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0368 a0001c0001t0005g0368	1	450	0.0022	-12	c.36 others(23): Show c.3652_*3663delGGACGGATGGAT	PSMD13	ENSG00000185627.19	transcript	ENST00000532097.6	protein_coding		3268		chr11	TogoVar
PSMD1_chr2_231051867_231177827	231105794	CCACTAAC others(5): Show CCACTAACACTAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03130.hp1 HG03139.hp1 others(2): Show HG02280.hp1 HG03130.hp1 HG03139.hp1 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0023 a0001c0002t0004g0024 a0001c0002t0004g0025 others(2): Show a0001c0002t0004g0023 a0001c0002t0004g0024 a0001c0002t0004g0025 a0001c0002t0004g0026 a0001c0002t0004g0027	5	364	0.0137	-12	c.188 others(33): Show c.1883+18621_1883+18632delACTAACACTAAC	PSMD1	ENSG00000173692.14	transcript	ENST00000308696.11	protein_coding	16/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD1_chr2_231051867_231177827	231144418	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	364	0.0028	-12	c.199 others(31): Show c.1999-1801_1999-1790delTTTTTTTTTTTT	PSMD1	ENSG00000173692.14	transcript	ENST00000308696.11	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD1_chr2_231051867_231177827	231165024	TTATATAT others(5): Show TTATATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp1 HG03471.hp2 others(1): Show HG02055.hp1 HG02559.hp1 HG03471.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0321 a0001c0001t0003g0122 a0001c0001t0003g0123 others(1): Show a0001c0001t0001g0321 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0128	4	364	0.0110	-12	c.248 others(29): Show c.2482-166_2482-155delTTATATATATAT	PSMD1	ENSG00000173692.14	transcript	ENST00000308696.11	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD2_chr3_184294241_184314050	184296561	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp2 NA18944.hp1 others(2): Show HG01099.hp1 HG01099.hp2 NA18944.hp1 NA18991.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0001c0001t0001 a0001c0001t0002 a0001c0008t0001	a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0002g0003 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0008t0001g0010	5	414	0.0121	-12	c.-27 others(23): Show c.-2705_-2694delAAAAAAAAAAAA	PSMD2	ENSG00000175166.17	transcript	ENST00000310118.9	protein_coding		2679		chr3	TogoVar

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