Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
PRKX_chrX_3599340_3718649	3632463	C C	CCCTGTCT others(8): Show CCCTGTCTGAATACAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(85): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01943.hp1 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02451.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp2 HG02735.hp1 HG02886.hp2 HG02965.hp1 HG03041.hp2 HG03453.hp1 HG03471.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG06807.hp2 NA18747.hp1 NA18942.hp1 NA18942.hp2 NA18948.hp1 NA18951.hp1 NA18961.hp1 NA18968.hp2 NA18988.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp1 NA19074.hp1 NA19087.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0008 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0044 a0001c0001t0054 a0001c0001t0073 a0001c0001t0075 a0001c0001t0079 a0001c0001t0089 a0001c0001t0090 a0001c0001t0093 a0001c0001t0094 a0001c0001t0097 a0001c0001t0098 a0001c0001t0100 a0001c0001t0111 a0001c0001t0130 a0001c0002t0001 a0001c0002t0004 a0001c0002t0007 a0001c0002t0009 a0001c0002t0015 a0001c0002t0016 a0001c0002t0018 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0027 a0001c0002t0031 a0001c0002t0039 a0001c0002t0051 a0001c0002t0064 a0001c0002t0078 a0001c0002t0083 a0001c0002t0086 a0001c0002t0099 a0001c0002t0102 a0001c0002t0140 a0001c0005t0019 a0001c0007t0025 a0001c0008t0077 a0002c0003t0008 a0002c0003t0010 a0002c0003t0011 a0002c0003t0104 a0002c0003t0115 a0002c0003t0116 a0002c0003t0118 a0002c0003t0123 a0002c0003t0127 a0002c0004t0110 a0002c0004t0128 a0002c0004t0132 a0002c0004t0133	a0001c0001t0001g0050 a0001c0001t0002g0082 a0001c0001t0002g0085 others(85): Show a0001c0001t0001g0050 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0003g0030 a0001c0001t0003g0041 a0001c0001t0006g0004 a0001c0001t0006g0007 a0001c0001t0006g0012 a0001c0001t0006g0028 a0001c0001t0006g0031 a0001c0001t0007g0150 a0001c0001t0009g0038 a0001c0001t0009g0095 a0001c0001t0010g0182 a0001c0001t0014g0020 a0001c0001t0015g0131 a0001c0001t0015g0162 a0001c0001t0016g0137 a0001c0001t0018g0111 a0001c0001t0018g0146 a0001c0001t0020g0153 a0001c0001t0020g0155 a0001c0001t0021g0165 a0001c0001t0022g0154 a0001c0001t0023g0135 a0001c0001t0026g0021 a0001c0001t0026g0092 a0001c0001t0028g0114 a0001c0001t0030g0132 a0001c0001t0030g0140 a0001c0001t0044g0051 a0001c0001t0054g0071 a0001c0001t0073g0029 a0001c0001t0075g0087 a0001c0001t0079g0045 a0001c0001t0089g0152 a0001c0001t0090g0116 a0001c0001t0093g0115 a0001c0001t0094g0107 a0001c0001t0097g0148 a0001c0001t0098g0108 a0001c0001t0100g0145 a0001c0001t0111g0179 a0001c0001t0130g0173 a0001c0002t0001g0022 a0001c0002t0001g0072 a0001c0002t0001g0093 a0001c0002t0004g0003 a0001c0002t0004g0033 a0001c0002t0007g0134 a0001c0002t0009g0011 a0001c0002t0015g0120 a0001c0002t0016g0119 a0001c0002t0018g0142 a0001c0002t0021g0143 a0001c0002t0021g0149 a0001c0002t0022g0122 a0001c0002t0022g0123 a0001c0002t0023g0136 a0001c0002t0027g0097 a0001c0002t0031g0164 a0001c0002t0039g0019 a0001c0002t0051g0015 a0001c0002t0064g0100 a0001c0002t0078g0079 a0001c0002t0083g0161 a0001c0002t0086g0139 a0001c0002t0099g0126 a0001c0002t0102g0168 a0001c0002t0140g0225 a0001c0005t0019g0141 a0001c0007t0025g0044 a0001c0008t0077g0089 a0002c0003t0008g0205 a0002c0003t0010g0188 a0002c0003t0010g0189 a0002c0003t0011g0216 a0002c0003t0104g0170 a0002c0003t0115g0186 a0002c0003t0116g0195 a0002c0003t0118g0219 a0002c0003t0123g0213 a0002c0003t0127g0185 a0002c0004t0110g0212 a0002c0004t0128g0200 a0002c0004t0132g0203 a0002c0004t0133g0220	88	227	0.3877	15	c.720 others(32): Show c.720-5950_720-5949insATGTATTCAGACAGG	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
PRKX_chrX_3599340_3718649	3637081	G G	GGGAGGGA others(8): Show GGGAGGGAGAGAGGAA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA19064.hp1 NA19065.hp1 NA18998.hp1 NA19064.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0073 a0001c0001t0097 a0001c0001t0014 a0001c0001t0073 a0001c0001t0097	a0001c0001t0014g0020 a0001c0001t0073g0029 a0001c0001t0097g0148 a0001c0001t0014g0020 a0001c0001t0073g0029 a0001c0001t0097g0148	3	227	0.0132	15	c.719 others(32): Show c.719+4756_719+4770dupTTCCTCTCTCCCTCC	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
PRKX_chrX_3599340_3718649	3649589	T T	TAGGGGAG others(8): Show TAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0045 a0001c0001t0079g0045	1	227	0.0044	15	c.599 others(32): Show c.599+5545_599+5559dupCCCCTCCCCTCCCCT	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	3/8			chrX	TogoVar
PRKX_chrX_3599340_3718649	3700749	T T	TTTGTTGT others(8): Show TTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0177 a0001c0001t0109g0177	1	227	0.0044	15	c.166 others(34): Show c.166+12324_166+12338dupCAACAACAACAACAA	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	1/8			chrX	TogoVar
PRLR_chr5_35050702_35235487	35102497	A A	ACTCCTCT others(8): Show ACTCCTCTCCTCTCCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01993.hp2 HG02280.hp1 others(3): Show HG00735.hp2 HG01993.hp2 HG02280.hp1 HG02630.hp2 HG02896.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0029 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0029 a0001c0001t0031	a0001c0001t0001g0063 a0001c0001t0001g0132 a0001c0001t0002g0159 others(3): Show a0001c0001t0001g0063 a0001c0001t0001g0132 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0029g0040 a0001c0001t0031g0042	6	214	0.0280	15	c.-43 others(34): Show c.-43-12849_-43-12835dupAGGAGAGGAGAGGAG	PRLR	ENSG00000113494.17	transcript	ENST00000618457.5	protein_coding	2/9			chr5	TogoVar
PRLR_chr5_35050702_35235487	35102502	T T	TCTCCACT others(8): Show TCTCCACTCCTCTCCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02886.hp1 HG03041.hp2 others(2): Show HG01891.hp1 HG02886.hp1 HG03041.hp2 HG03130.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0018 a0001c0001t0002 a0001c0001t0013 a0001c0001t0018	a0001c0001t0002g0008 a0001c0001t0013g0019 a0001c0001t0013g0026 others(2): Show a0001c0001t0002g0008 a0001c0001t0013g0019 a0001c0001t0013g0026 a0001c0001t0013g0107 a0001c0001t0018g0025	5	214	0.0234	15	c.-43 others(34): Show c.-43-12840_-43-12839insGGGAGAGGAGTGGAG	PRLR	ENSG00000113494.17	transcript	ENST00000618457.5	protein_coding	2/9			chr5	TogoVar
PRMT2_chr21_46630674_46670124	46661970	G G	GTGGGGGG others(8): Show GTGGGGGGCGCGGAGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01081.hp2 HG01106.hp1 others(3): Show HG01069.hp1 HG01081.hp2 HG01106.hp1 HG01192.hp2 HG01891.hp1 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0007 a0001c0002t0004 a0001c0002t0007	a0001c0002t0004g0018 a0001c0002t0004g0064 a0001c0002t0004g0065 others(2): Show a0001c0002t0004g0018 a0001c0002t0004g0064 a0001c0002t0004g0065 a0001c0002t0007g0018 a0001c0002t0007g0071	6	426	0.0141	15	c.109 others(30): Show c.1097+42_1097+43insGCGGAGATGGGGGGC	PRMT2	ENSG00000160310.19	transcript	ENST00000355680.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
PRMT8_chr12_3486203_3598973	3496215	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03195.hp1 NA20129.hp1 others(1): Show HG02523.hp1 HG03195.hp1 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0085 a0001c0001t0001g0108 a0001c0001t0001g0138 others(1): Show a0001c0001t0001g0085 a0001c0001t0001g0108 a0001c0001t0001g0138 a0001c0001t0013g0018	4	364	0.0110	15	c.75+ others(30): Show c.75+4515_75+4516insATATATATATATATA	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9			chr12	TogoVar
PRMT9_chr4_147632785_147689163	147685238	C C	CTTTCTTT others(8): Show CTTTCTTTCTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	222	0.0045	15	c.-12 others(26): Show c.-1252_-1251insAAAAAAAGAAAGAAA	PRMT9	ENSG00000164169.13	transcript	ENST00000322396.7	protein_coding		1076		chr4	TogoVar
PRND_chr20_4716909_4733460	4727793	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00544.hp1 others(53): Show HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01123.hp2 HG01515.hp1 HG01884.hp2 HG02027.hp2 HG02056.hp2 HG02129.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG03017.hp2 HG03239.hp1 HG03654.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18946.hp2 NA18950.hp1 NA18953.hp2 NA18955.hp1 NA18957.hp2 NA18962.hp2 NA18966.hp1 NA18973.hp1 NA18974.hp2 NA18982.hp2 NA18987.hp2 NA18990.hp2 NA19003.hp1 NA19004.hp2 NA19012.hp2 NA19054.hp2 NA19056.hp2 NA19063.hp1 NA19074.hp2 NA19089.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0007c0007	a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 others(35): Show a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0066 a0001c0001t0074 a0001c0001t0187 a0001c0001t0196 a0001c0001t0233 a0001c0001t0248 a0001c0001t0255 a0001c0001t0256 a0001c0001t0262 a0001c0001t0263 a0001c0001t0269 a0001c0001t0273 a0001c0001t0297 a0001c0001t0299 a0001c0001t0304 a0001c0001t0315 a0001c0003t0074 a0002c0002t0018 a0002c0002t0019 a0002c0002t0086 a0002c0002t0110 a0002c0002t0113 a0002c0002t0130 a0002c0002t0140 a0002c0002t0151 a0002c0002t0164 a0002c0002t0203 a0002c0002t0206 a0002c0002t0216 a0002c0002t0219 a0003c0004t0088 a0003c0004t0093 a0003c0004t0099 a0007c0007t0197	a0001c0001t0009g0003 a0001c0001t0009g0025 a0001c0001t0011g0003 others(41): Show a0001c0001t0009g0003 a0001c0001t0009g0025 a0001c0001t0011g0003 a0001c0001t0011g0024 a0001c0001t0011g0029 a0001c0001t0012g0001 a0001c0001t0012g0003 a0001c0001t0013g0001 a0001c0001t0013g0035 a0001c0001t0066g0001 a0001c0001t0074g0002 a0001c0001t0187g0004 a0001c0001t0196g0004 a0001c0001t0233g0035 a0001c0001t0248g0003 a0001c0001t0255g0001 a0001c0001t0256g0001 a0001c0001t0262g0002 a0001c0001t0263g0001 a0001c0001t0269g0001 a0001c0001t0273g0001 a0001c0001t0297g0002 a0001c0001t0299g0030 a0001c0001t0304g0002 a0001c0001t0315g0017 a0001c0003t0074g0002 a0002c0002t0018g0005 a0002c0002t0018g0102 a0002c0002t0019g0013 a0002c0002t0086g0050 a0002c0002t0110g0006 a0002c0002t0113g0010 a0002c0002t0130g0092 a0002c0002t0140g0005 a0002c0002t0151g0053 a0002c0002t0164g0038 a0002c0002t0203g0014 a0002c0002t0206g0009 a0002c0002t0216g0009 a0002c0002t0219g0009 a0003c0004t0088g0027 a0003c0004t0093g0027 a0003c0004t0099g0027 a0007c0007t0197g0004	56	480	0.1167	15	c.27 others(26): Show c.2721_*2722insTTTTTTTTTTTTTTT	PRND	ENSG00000171864.5	transcript	ENST00000305817.3	protein_coding	2/2	2722	INFO_REALIGN_3_PRIME	chr20	TogoVar
PROCA1_chr17_28698197_28716888	28708731	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03139.hp2 NA18978.hp1 others(3): Show HG02145.hp1 HG03139.hp2 NA18978.hp1 NA19000.hp1 NA19084.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0179 a0001c0001t0001g0181 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0197	6	320	0.0188	15	c.92- others(30): Show c.92-1983_92-1969dupTTTTTTTTTTTTTTT	PROCA1	ENSG00000167525.16	transcript	ENST00000682792.1	protein_coding	1/4			chr17	TogoVar
PROCA1_chr17_28698197_28716888	28715418	C C	CCTGAGCC others(8): Show CCTGAGCCTCCACTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	320	0.0031	15	c.-37 others(26): Show c.-3759_-3758insAGAGTGGAGGCTCAG	PROCA1	ENSG00000167525.16	transcript	ENST00000682792.1	protein_coding		3531		chr17	TogoVar
PROCR_chr20_35167072_35182362	35178507	G G	GTTTTGTT others(8): Show GTTTTGTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01099.hp2 HG01169.hp2 others(10): Show HG01071.hp1 HG01099.hp2 HG01169.hp2 HG02615.hp2 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03098.hp2 HG03486.hp2 HG03942.hp1 HG04184.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0005t0001g0008	13	392	0.0332	15	c.16 others(26): Show c.1694_*1695insTTTTGTTTTTTTTTT	PROCR	ENSG00000101000.6	transcript	ENST00000216968.5	protein_coding		1146		chr20	TogoVar
PROC_chr2_127413427_127434242	127414994	C C	CCGTCAGC others(8): Show CCGTCAGCCCTGACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	418	0.0024	15	c.-35 others(26): Show c.-3520_-3519insCGTCAGCCCTGACCA	PROC	ENSG00000115718.18	transcript	ENST00000234071.8	protein_coding		3432		chr2	TogoVar
PRODH2_chr19_35794988_35817845	35814606	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0074 a0006c0012t0001g0074	1	428	0.0023	15	c.-18 others(26): Show c.-1802_-1801insAAAAAAAAAAAAAAA	PRODH2	ENSG00000250799.11	transcript	ENST00000653904.2	protein_coding		1762		chr19	TogoVar
PRODH_chr22_18907781_18941293	18936335	T T	TCCCGCCC others(8): Show TCCCGCCCCGCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01358.hp2 HG01433.hp2 others(3): Show HG00323.hp1 HG01358.hp2 HG01433.hp2 HG02273.hp1 HG03710.hp1 NA20300.hp1	a0001 a0003 a0013 others(1): Show a0001 a0003 a0013 a0051	a0001c0001 a0003c0003 a0013c0019 others(1): Show a0001c0001 a0003c0003 a0013c0019 a0051c0070	a0001c0001t0001 a0003c0003t0001 a0013c0019t0001 others(1): Show a0001c0001t0001 a0003c0003t0001 a0013c0019t0001 a0051c0070t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0003c0003t0001g0045 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0003c0003t0001g0045 a0013c0019t0001g0084 a0051c0070t0001g0150	6	409	0.0147	15	c.-63 others(22): Show c.-63_-49dupGCGGGGCGGGGCGGG	PRODH	ENSG00000100033.17	transcript	ENST00000357068.11	protein_coding		43		chr22	TogoVar
PROK2_chr3_71766655_71790148	71790066	T T	TTATTATA others(8): Show TTATTATATTATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01884.hp2 HG02071.hp2 others(16): Show HG00621.hp1 HG01884.hp2 HG02071.hp2 HG02486.hp1 HG02572.hp1 HG03130.hp2 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp2 NA18961.hp1 NA18975.hp1 NA18981.hp1 NA18985.hp2 NA18997.hp2 NA19043.hp1 NA19066.hp1 NA19081.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0001 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0016 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0004g0008 a0001c0001t0010g0051	19	438	0.0434	15	c.-50 others(26): Show c.-5015_-5014insTAATATAATATAATA	PROK2	ENSG00000163421.9	transcript	ENST00000295619.4	protein_coding		4919		chr3	TogoVar
PROKR2_chr20_5294218_5321954	5298439	C C	CGCGCGCG others(8): Show CGCGCGCGCGCGCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0071 a0001c0001t0024g0071	1	424	0.0024	15	c.36 others(26): Show c.3600_*3601insCGCGCGCGCGCGCGC	PROKR2	ENSG00000101292.8	transcript	ENST00000678254.1	protein_coding		778		chr20	TogoVar
PROM1_chr4_15963228_16089023	16047575	T T	TGTTACAA others(8): Show TGTTACAATTAGTTTC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01167.hp1 HG02145.hp2 others(18): Show HG01099.hp1 HG01167.hp1 HG02145.hp2 HG02486.hp1 HG02622.hp2 HG02723.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03139.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 NA18952.hp2 NA18978.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0005t0001	a0001c0001t0001g0023 a0001c0001t0001g0190 a0001c0001t0001g0335 others(18): Show a0001c0001t0001g0023 a0001c0001t0001g0190 a0001c0001t0001g0335 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0359 a0001c0001t0003g0337 a0001c0001t0004g0328 a0001c0001t0004g0336 a0001c0001t0004g0352 a0001c0002t0001g0334 a0001c0004t0001g0129 a0001c0004t0002g0128 a0001c0004t0002g0137 a0001c0004t0002g0327 a0001c0004t0002g0354 a0001c0004t0004g0317 a0001c0004t0004g0326 a0001c0005t0001g0220	21	374	0.0562	15	c.221 others(32): Show c.221-8589_221-8575dupGAAACTAATTGTAAC	PROM1	ENSG00000007062.12	transcript	ENST00000447510.7	protein_coding	2/27			chr4	TogoVar
PROSER2_chr10_11818356_11877277	11842931	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18956.hp1 HG00438.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0001 a0001c0025t0001 a0001c0001t0001 a0001c0025t0001	a0001c0001t0001g0322 a0001c0025t0001g0298 a0001c0001t0001g0322 a0001c0025t0001g0298	2	348	0.0058	15	c.-81 others(32): Show c.-81-9053_-81-9039dupTTTTTTTTTTTTTTT	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PROSER2_chr10_11818356_11877277	11859008	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	348	0.0029	15	c.138 others(32): Show c.138+6803_138+6817dupAAAAAAAAAAAAAAA	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PROSER3_chr19_35753176_35776166	35771985	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	424	0.0024	15	c.34 others(26): Show c.3440_*3441insTTTTTTTTTTTTTTT	PROSER3	ENSG00000167595.16	transcript	ENST00000646935.2	protein_coding		820		chr19	TogoVar
PROSER3_chr19_35753176_35776166	35771989	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0010 a0005c0006t0010	a0005c0006t0010g0014 a0005c0006t0010g0014	1	424	0.0024	15	c.34 others(26): Show c.3444_*3445insTTTTTTTTTTTTTTT	PROSER3	ENSG00000167595.16	transcript	ENST00000646935.2	protein_coding		824		chr19	TogoVar
PROZ_chr13_113153648_113177386	113154165	A A	AGGAGGGG others(8): Show AGGAGGGGCGTGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	15	c.-44 others(26): Show c.-4496_-4495insGGAGGGGCGTGGGGG	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4482		chr13	TogoVar
PROZ_chr13_113153648_113177386	113154274	G G	GGCGGGGC others(8): Show GGCGGGGCGCGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	378	0.0027	15	c.-43 others(26): Show c.-4387_-4386insGCGGGGCGCGGGGGA	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4373		chr13	TogoVar
PROZ_chr13_113153648_113177386	113154357	G G	GGGGCGCG others(8): Show GGGGCGCGGGGGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	378	0.0027	15	c.-43 others(26): Show c.-4304_-4303insGGGCGCGGGGGAGGC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4290		chr13	TogoVar
PRPF31_chr19_54110754_54136713	54126106	C C	CTGGCCAC others(8): Show CTGGCCACATGACTTG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	227	0.0044	15	c.856 others(30): Show c.856-421_856-407dupTGGCCACATGACTTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133779	C C	CTCTCCAC others(8): Show CTCTCCACCTTCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0028 a0001c0009t0001g0028	1	227	0.0044	15	c.23 others(26): Show c.2347_*2348insTCTCCACCTTCCCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2067		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133869	T T	TCTCCACC others(8): Show TCTCCACCTCCCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	227	0.0044	15	c.24 others(26): Show c.2437_*2438insCTCCACCTCCCCTCA	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2157		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133974	T T	TCCCTCTC others(8): Show TCCCTCTCTCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0089 a0001c0013t0001g0089	1	227	0.0044	15	c.25 others(26): Show c.2542_*2543insCCCTCTCTCCACCTC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2262		chr19	TogoVar
PRPF3_chr1_150316533_150358233	150323173	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	362	0.0028	15	c.-49 others(32): Show c.-49+1591_-49+1605dupTTTTTTTTTTTTTTT	PRPF3	ENSG00000117360.13	transcript	ENST00000324862.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF3_chr1_150316533_150358233	150348460	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp1 HG01081.hp1 others(28): Show HG00733.hp2 HG00741.hp1 HG01081.hp1 HG01167.hp2 HG01515.hp1 HG01517.hp1 HG02056.hp2 HG02129.hp2 HG02145.hp2 HG02809.hp2 HG02818.hp1 HG03453.hp2 NA18944.hp2 NA18953.hp2 NA18954.hp2 NA18961.hp2 NA18971.hp1 NA18972.hp1 NA18978.hp2 NA18982.hp1 NA18984.hp1 NA18989.hp1 NA19003.hp2 NA19005.hp2 NA19009.hp2 NA19030.hp1 NA19068.hp2 NA19074.hp2 NA19076.hp1 NA19079.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0008 a0001c0001 a0001c0002 a0003c0008	a0001c0001t0001 a0001c0002t0001 a0003c0008t0001 a0001c0001t0001 a0001c0002t0001 a0003c0008t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(28): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0286 a0001c0001t0001g0315 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0002t0001g0214 a0001c0002t0001g0353 a0003c0008t0001g0044	31	362	0.0856	15	c.184 others(32): Show c.1844-692_1844-678dupTTTTTTTTTTTTTTT	PRPF3	ENSG00000117360.13	transcript	ENST00000324862.7	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF3_chr1_150316533_150358233	150357508	G G	GTGTTGTT others(8): Show GTGTTGTTGTTGTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG03239.hp2 HG01109.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0343 a0001c0001t0001g0338 a0001c0001t0001g0343	2	362	0.0055	15	c.45 others(26): Show c.4529_*4530insTGTTGTTGTTGTTGT	PRPF3	ENSG00000117360.13	transcript	ENST00000324862.7	protein_coding		4276		chr1	TogoVar
PRPF4B_chr6_4016300_4069983	4029012	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02965.hp2 HG06807.hp2 HG01516.hp2 HG02965.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0180 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0180 a0002c0002t0002g0184 a0002c0002t0002g0185	3	368	0.0082	15	c.42- others(30): Show c.42-2540_42-2526dupTTTTTTTTTTTTTTT	PRPF4B	ENSG00000112739.17	transcript	ENST00000337659.11	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRPF4B_chr6_4016300_4069983	4035284	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG04184.hp2 HG02273.hp1 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0168 a0002c0002t0002g0173 a0002c0002t0002g0168 a0002c0002t0002g0173	2	368	0.0054	15	c.123 others(34): Show c.1239-2094_1239-2080dupTTTTTTTTTTTTTTT	PRPF4B	ENSG00000112739.17	transcript	ENST00000337659.11	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRPF4B_chr6_4016300_4069983	4053903	T T	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01891.hp2 HG02055.hp1 others(17): Show HG01081.hp2 HG01891.hp2 HG02055.hp1 HG02145.hp2 HG02630.hp1 HG02809.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0005t0006 a0001c0007t0006	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(16): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0200 a0001c0001t0001g0293 a0001c0001t0001g0311 a0001c0001t0002g0341 a0001c0001t0006g0012 a0001c0001t0006g0292 a0001c0005t0006g0318 a0001c0005t0006g0319 a0001c0005t0006g0320 a0001c0005t0006g0321 a0001c0007t0006g0211 a0001c0007t0006g0306 a0001c0007t0006g0307	20	368	0.0544	15	c.246 others(34): Show c.2466+1041_2466+1055dupTTTTGTTTTGTTTTG	PRPF4B	ENSG00000112739.17	transcript	ENST00000337659.11	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRPF8_chr17_1645629_1689867	1682656	A A	ACTAGACC others(8): Show ACTAGACCGCACACTG	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0033 a0005c0012t0001g0033	1	291	0.0034	15	c.270 others(30): Show c.270-378_270-364dupCAGTGTGCGGTCTAG	PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding	3/42			chr17	TogoVar
PRPH2_chr6_42691598_42727597	42701682	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01517.hp2 NA18963.hp2 others(1): Show HG00558.hp2 HG01517.hp2 NA18963.hp2 NA18983.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0006 a0001c0002t0024 a0002c0004t0005 a0001c0002t0006 a0001c0002t0024 a0002c0004t0005	a0001c0002t0006g0320 a0001c0002t0024g0310 a0002c0004t0005g0018 others(1): Show a0001c0002t0006g0320 a0001c0002t0024g0310 a0002c0004t0005g0018 a0002c0004t0005g0020	4	392	0.0102	15	c.828 others(32): Show c.828+2668_828+2682dupAAAAAAAAAAAAAAA	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	2/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0308 a0001c0002t0001g0308	1	392	0.0026	15	c.582 others(30): Show c.582-989_582-988insATATATATATTTTTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03579.hp1 NA20129.hp2 HG00438.hp2 HG03579.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0014 a0001c0002t0001 a0001c0002t0014	a0001c0002t0001g0279 a0001c0002t0001g0351 a0001c0002t0014g0364 a0001c0002t0001g0279 a0001c0002t0001g0351 a0001c0002t0014g0364	3	392	0.0077	15	c.582 others(30): Show c.582-989_582-988insATATATATATATTTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18990.hp2 NA19007.hp1 NA18747.hp2 NA18990.hp2 NA19007.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0003 a0002c0003t0010 a0001c0002t0001 a0002c0003t0003 a0002c0003t0010	a0001c0002t0001g0236 a0002c0003t0003g0221 a0002c0003t0010g0251 a0001c0002t0001g0236 a0002c0003t0003g0221 a0002c0003t0010g0251	3	392	0.0077	15	c.582 others(30): Show c.582-989_582-988insATATATATATATATT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0278 a0001c0002t0001g0278	1	392	0.0026	15	c.582 others(30): Show c.582-989_582-988insATATATATATATATA	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH_chr12_49290147_49303686	49299530	A A	AAATAATA others(8): Show AAATAATAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0007 a0002c0005t0001g0007	1	382	0.0026	15	c.11 others(26): Show c.1177_*1178insAATAATAATAATAAT	PRPH	ENSG00000135406.15	transcript	ENST00000257860.9	protein_coding		845		chr12	TogoVar
PRPS2_chrX_12786412_12829222	12826648	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01192.hp1 HG01255.hp1 others(4): Show HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp2 HG01516.hp1 HG01884.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0148 a0001c0001t0001g0193 a0001c0001t0001g0223 others(4): Show a0001c0001t0001g0148 a0001c0001t0001g0193 a0001c0001t0001g0223 a0001c0002t0001g0214 a0001c0002t0001g0219 a0001c0002t0002g0225 a0001c0002t0002g0262	7	334	0.0210	15	c.38 others(26): Show c.3852_*3853insAAAAAAAAAAAAAAA	PRPS2	ENSG00000101911.13	transcript	ENST00000380668.10	protein_coding		2427		chrX	TogoVar
PRPSAP1_chr17_76304478_76358916	76347484	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0208 a0001c0002t0002g0208	1	366	0.0027	15	c.223 others(32): Show c.223+1030_223+1044dupTTTTTTTTTTTTTTT	PRPSAP1	ENSG00000161542.17	transcript	ENST00000446526.8	protein_coding	2/9			chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18869836	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0166 a0001c0002t0002g0166	1	392	0.0026	15	c.172 others(32): Show c.172+2502_172+2503insGTGTGTGTGTGTGTG	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	4/11			chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18897450	G G	GTGTTGTT others(8): Show GTGTTGTTGTTGTTGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00735.hp2 others(10): Show HG00423.hp2 HG00544.hp2 HG00735.hp2 HG01358.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG03654.hp1 NA18979.hp2 NA18999.hp1 NA19030.hp1 NA19057.hp1 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0057 others(10): Show a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0057 a0001c0002t0002g0073 a0001c0002t0002g0077 a0001c0002t0002g0090 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0113 a0001c0002t0002g0125 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0175	13	392	0.0332	15	c.584 others(32): Show c.584+7575_584+7576insTTGTTGTTGTTGTTG	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18929358	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 NA19240.hp1 HG01109.hp2 HG02055.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0004 a0001c0001t0006 a0001c0002t0004	a0001c0001t0006g0193 a0001c0001t0006g0194 a0001c0002t0004g0127 a0001c0001t0006g0193 a0001c0001t0006g0194 a0001c0002t0004g0127	3	392	0.0077	15	c.951 others(30): Show c.951+420_951+434dupAATAATAATAATAAT	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRR11_chr17_59150746_59211709	59168143	T T	TTTTTATT others(8): Show TTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02572.hp1 HG02293.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0014 a0001c0001t0008 a0001c0001t0014	a0001c0001t0008g0127 a0001c0001t0014g0125 a0001c0001t0008g0127 a0001c0001t0014g0125	2	290	0.0069	15	c.-5- others(30): Show c.-5-1588_-5-1574dupTTTATTTTATTTTAT	PRR11	ENSG00000068489.13	transcript	ENST00000262293.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRR13_chr12_53436734_53451638	53445624	A A	ATCTAGAT others(8): Show ATCTAGATTTGCACGC	intron_variant intron_variant	MODIFIER	NA18976.hp1 NA18976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	388	0.0026	15	c.403 others(30): Show c.403-391_403-390insTCTAGATTTGCACGC	PRR13	ENSG00000205352.11	transcript	ENST00000429243.7	protein_coding	3/3			chr12	TogoVar

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