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
PRMT3_chr11_20382716_20514338	20504707	T T	TGAGAGAG others(15): Show TGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	380	0.0026	22	c.148 others(41): Show c.1487-3579_1487-3558dupAGAGAGAGAGAGAGAGAGAGAG	PRMT3	ENSG00000185238.13	transcript	ENST00000331079.11	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRMT3_chr11_20382716_20514338	20504707	T T	TGTGAGAG others(15): Show TGTGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02257.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0087 a0001c0001t0002g0362 a0001c0001t0001g0087 a0001c0001t0002g0362	2	380	0.0053	22	c.148 others(41): Show c.1487-3596_1487-3595insTGAGAGAGAGAGAGAGAGAGAG	PRMT3	ENSG00000185238.13	transcript	ENST00000331079.11	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRMT7_chr16_68306019_68363584	68319711	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02083.hp1 HG02630.hp1 others(3): Show HG01261.hp2 HG02083.hp1 HG02630.hp1 HG02922.hp2 NA18950.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0154 a0001c0001t0001g0180 others(3): Show a0001c0001t0001g0128 a0001c0001t0001g0154 a0001c0001t0001g0180 a0001c0001t0001g0220 a0001c0001t0001g0247 a0001c0001t0001g0248	6	284	0.0211	22	c.96- others(37): Show c.96-1706_96-1685dupGTGTGTGTGTGTGTGTGTGTGT	PRMT7	ENSG00000132600.18	transcript	ENST00000441236.3	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRMT7_chr16_68306019_68363584	68344933	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG01884.hp2 others(12): Show HG00738.hp2 HG00741.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02615.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03491.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0020 a0001c0002 a0001c0003 a0001c0020	a0001c0002t0001 a0001c0003t0002 a0001c0003t0006 others(1): Show a0001c0002t0001 a0001c0003t0002 a0001c0003t0006 a0001c0020t0002	a0001c0002t0001g0125 a0001c0003t0002g0007 a0001c0003t0002g0008 others(11): Show a0001c0002t0001g0125 a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0030 a0001c0003t0002g0060 a0001c0003t0002g0062 a0001c0003t0002g0063 a0001c0003t0002g0096 a0001c0003t0002g0097 a0001c0003t0002g0100 a0001c0003t0002g0102 a0001c0003t0002g0105 a0001c0003t0006g0113 a0001c0020t0002g0008	15	284	0.0528	22	c.928 others(37): Show c.928-739_928-718dupACACACACACACACACACACAC	PRMT7	ENSG00000132600.18	transcript	ENST00000441236.3	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRMT7_chr16_68306019_68363584	68344933	T T	TACACACA others(15): Show TACACACACACACACACACATAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00558.hp2 others(130): Show HG00408.hp2 HG00438.hp1 HG00558.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18949.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18973.hp1 NA18977.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18991.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp1 NA19066.hp1 NA19070.hp1 NA19079.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0002 a0001c0007 others(5): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0001c0015 a0002c0006 a0006c0019 a0007c0012	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001 a0001c0002t0006 a0001c0002t0009 a0001c0007t0004 a0001c0007t0013 a0001c0008t0001 a0001c0008t0016 a0001c0015t0001 a0002c0006t0004 a0006c0019t0004 a0007c0012t0001	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 others(125): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0258 a0001c0001t0005g0015 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0264 a0001c0001t0008g0239 a0001c0001t0008g0240 a0001c0001t0008g0241 a0001c0001t0008g0242 a0001c0001t0014g0133 a0001c0001t0015g0182 a0001c0002t0001g0213 a0001c0002t0001g0222 a0001c0002t0001g0238 a0001c0002t0006g0047 a0001c0002t0009g0175 a0001c0007t0004g0260 a0001c0007t0013g0261 a0001c0008t0001g0142 a0001c0008t0016g0189 a0001c0015t0001g0143 a0002c0006t0004g0178 a0002c0006t0004g0214 a0002c0006t0004g0230 a0006c0019t0004g0253 a0007c0012t0001g0012	133	284	0.4683	22	c.928 others(37): Show c.928-723_928-722insTACACACACACACACACACACA	PRMT7	ENSG00000132600.18	transcript	ENST00000441236.3	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRMT8_chr12_3486203_3598973	3490675	A A	AAGAGAGA others(15): Show AAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01361.hp1 HG01993.hp1 others(1): Show HG01081.hp1 HG01361.hp1 HG01993.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0328 others(1): Show a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0328 a0001c0001t0003g0181	4	364	0.0110	22	c.-95 others(31): Show c.-951_-950insAGAGAGAGAGAGAGAGAGAGAG	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding		527		chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496199	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02615.hp1 HG02976.hp2 others(1): Show HG00639.hp2 HG02615.hp1 HG02976.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0275 a0001c0001t0001g0310 a0001c0001t0001g0326 others(1): Show a0001c0001t0001g0275 a0001c0001t0001g0310 a0001c0001t0001g0326 a0001c0001t0007g0325	4	364	0.0110	22	c.75+ others(37): Show c.75+4515_75+4516insATATATATATATATATATATAT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA18942.hp1 NA19004.hp1 HG01069.hp2 NA18942.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0022 a0001c0001t0001g0204 a0001c0002t0002g0106 a0001c0001t0001g0022 a0001c0001t0001g0204 a0001c0002t0002g0106	3	364	0.0082	22	c.75+ others(37): Show c.75+4515_75+4516insATATATATATATATATTTTTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02647.hp1 HG02135.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0006 a0001c0001t0001 a0001c0005t0006	a0001c0001t0001g0254 a0001c0005t0006g0359 a0001c0001t0001g0254 a0001c0005t0006g0359	2	364	0.0055	22	c.75+ others(37): Show c.75+4515_75+4516insATATATATATATATTTTTTTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PROM1_chr4_15963228_16089023	16027297	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0107 a0004c0008t0002g0107	1	374	0.0027	22	c.510 others(39): Show c.510-2007_510-1986dupGTGTGTGTGTGTGTGTGTGTGT	PROM1	ENSG00000007062.12	transcript	ENST00000447510.7	protein_coding	5/27			chr4	TogoVar
PROSER2_chr10_11818356_11877277	11842931	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01168.hp2 HG03710.hp2 others(1): Show HG01074.hp1 HG01168.hp2 HG03710.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0191 a0001c0001t0001g0255 others(1): Show a0001c0001t0001g0087 a0001c0001t0001g0191 a0001c0001t0001g0255 a0001c0001t0001g0270	4	348	0.0115	22	c.-81 others(39): Show c.-81-9060_-81-9039dupTTTTTTTTTTTTTTTTTTTTTT	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PROX2_chr14_74848033_74881145	74870441	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01884.hp2 HG02257.hp1 others(4): Show HG01358.hp1 HG01884.hp2 HG02257.hp1 HG02630.hp2 HG06807.hp2 NA19076.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 a0001c0001t0020 a0001c0001t0034	a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 others(4): Show a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0004g0322 a0001c0001t0019g0173 a0001c0001t0020g0240 a0001c0001t0034g0323	7	384	0.0182	22	c.-17 others(39): Show c.-175+640_-175+661dupGTGTGTGTGTGTGTGTGTGTGT	PROX2	ENSG00000119608.15	transcript	ENST00000556489.4	protein_coding	2/5			chr14	TogoVar
PRPF31_chr19_54110754_54136713	54133982	T T	TCCACCTC others(15): Show TCCACCTCCCCTCCCTCTCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG01071.hp2 others(21): Show HG00099.hp1 HG00280.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01433.hp2 HG01496.hp2 HG01975.hp1 HG01978.hp2 HG02273.hp2 HG02559.hp2 HG02738.hp2 HG03239.hp1 HG03239.hp2 HG03669.hp2 HG04184.hp2 NA18960.hp2 NA18983.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0085 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0113	24	227	0.1057	22	c.25 others(33): Show c.2550_*2551insCCACCTCCCCTCCCTCTCTCCA	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2270		chr19	TogoVar
PRPF3_chr1_150316533_150358233	150348460	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG06807.hp1 HG03453.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0215 a0001c0002t0001g0217 a0001c0002t0001g0215 a0001c0002t0001g0217	2	362	0.0055	22	c.184 others(39): Show c.1844-678_1844-677insTTTTTTTTTTTTTTTTTTTTTT	PRPF3	ENSG00000117360.13	transcript	ENST00000324862.7	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF4_chr9_113270658_113297905	113285343	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	426	0.0024	22	c.750 others(37): Show c.750-857_750-836dupTTTTTTTTTTTTTTTTTTTTTT	PRPF4	ENSG00000136875.13	transcript	ENST00000374198.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0323 a0002c0003t0003g0323	1	392	0.0026	22	c.582 others(37): Show c.582-989_582-988insATATATATATATATTTTTTTTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02572.hp2 NA18981.hp2 HG02080.hp2 HG02572.hp2 NA18981.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0003 a0001c0002t0001 a0002c0003t0003	a0001c0002t0001g0248 a0002c0003t0003g0244 a0002c0003t0003g0285 a0001c0002t0001g0248 a0002c0003t0003g0244 a0002c0003t0003g0285	3	392	0.0077	22	c.582 others(37): Show c.582-989_582-988insATATATATATATATATTTTTTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01361.hp1 NA18965.hp1 HG00673.hp1 HG01361.hp1 NA18965.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0003 a0001c0002t0001 a0002c0003t0003	a0001c0002t0001g0338 a0002c0003t0003g0263 a0002c0003t0003g0274 a0001c0002t0001g0338 a0002c0003t0003g0263 a0002c0003t0003g0274	3	392	0.0077	22	c.582 others(37): Show c.582-989_582-988insATATATATATATATATATTTTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19056.hp2 NA19063.hp1 others(1): Show HG04184.hp1 NA19056.hp2 NA19063.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0003 a0001c0002t0001 a0002c0003t0003	a0001c0002t0001g0202 a0001c0002t0001g0286 a0001c0002t0001g0339 others(1): Show a0001c0002t0001g0202 a0001c0002t0001g0286 a0001c0002t0001g0339 a0002c0003t0003g0239	4	392	0.0102	22	c.582 others(37): Show c.582-989_582-988insATATATATATATATATATATTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPS1L1_chr7_18021770_18032846	18030627	A A	AATATATA others(15): Show AATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	462	0.0022	22	c.-28 others(33): Show c.-2846_-2845insATATATATATATATATATATAT	PRPS1L1	ENSG00000229937.9	transcript	ENST00000506618.5	protein_coding		2782	WARNING_TRANSCRIPT_NO_START_CODON	chr7	TogoVar
PRPS1L1_chr7_18021770_18032846	18030651	T T	TATATATA others(15): Show TATATATATATATATATACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	462	0.0022	22	c.-28 others(33): Show c.-2870_-2869insGTGTGTATATATATATATATAT	PRPS1L1	ENSG00000229937.9	transcript	ENST00000506618.5	protein_coding		2806	WARNING_TRANSCRIPT_NO_START_CODON	chr7	TogoVar
PRPS1L1_chr7_18021770_18032846	18030651	T T	TATATATA others(15): Show TATATATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG03927.hp2 NA18950.hp1 others(1): Show HG00438.hp2 HG03927.hp2 NA18950.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	462	0.0087	22	c.-28 others(33): Show c.-2870_-2869insGTGTATATATATATATATATAT	PRPS1L1	ENSG00000229937.9	transcript	ENST00000506618.5	protein_coding		2806	WARNING_TRANSCRIPT_NO_START_CODON	chr7	TogoVar
PRPS1L1_chr7_18021770_18032846	18030651	T T	TATATATA others(15): Show TATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00558.hp2 others(28): Show HG00408.hp1 HG00408.hp2 HG00558.hp2 HG00733.hp1 HG01168.hp2 HG02071.hp1 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02523.hp1 HG03017.hp1 HG03654.hp2 HG03669.hp1 HG03942.hp1 HG04184.hp2 NA18946.hp1 NA18964.hp1 NA18966.hp1 NA18972.hp1 NA18973.hp1 NA18979.hp1 NA18988.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19074.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	31	462	0.0671	22	c.-28 others(33): Show c.-2870_-2869insGTATATATATATATATATATAT	PRPS1L1	ENSG00000229937.9	transcript	ENST00000506618.5	protein_coding		2806	WARNING_TRANSCRIPT_NO_START_CODON	chr7	TogoVar
PRPS1_chrX_107623510_107656026	107623571	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00733.hp1 HG01123.hp2 others(11): Show HG00673.hp1 HG00733.hp1 HG01123.hp2 HG01361.hp2 HG01978.hp1 HG02074.hp1 HG02622.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG04199.hp1 HG06807.hp1 NA18985.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0016 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0057 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0107 a0001c0001t0002g0083 a0001c0001t0002g0084	14	245	0.0571	22	c.-50 others(33): Show c.-5058_-5057insTCTTTCTTTCTTTCTTTCTTTC	PRPS1	ENSG00000147224.13	transcript	ENST00000372435.10	protein_coding		4938		chrX	TogoVar
PRPS2_chrX_12786412_12829222	12801221	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18522.hp1 NA18978.hp1 HG02886.hp2 NA18522.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0093 a0001c0001t0003g0186 a0001c0002t0001g0286 a0001c0001t0002g0093 a0001c0001t0003g0186 a0001c0002t0001g0286	3	334	0.0090	22	c.306 others(39): Show c.306+1842_306+1863dupGTGTGTGTGTGTGTGTGTGTGT	PRPS2	ENSG00000101911.13	transcript	ENST00000380668.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PRPS2_chrX_12786412_12829222	12825968	T T	TTTGTCAG others(15): Show TTTGTCAGAGGAAAAGACTGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0077 a0001c0001t0011g0077	1	334	0.0030	22	c.31 others(33): Show c.3172_*3173insTTGTCAGAGGAAAAGACTGCTG	PRPS2	ENSG00000101911.13	transcript	ENST00000380668.10	protein_coding		1747		chrX	TogoVar
PRPS2_chrX_12786412_12829222	12826648	G G	GAAAAAAA others(15): Show GAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	334	0.0030	22	c.38 others(33): Show c.3852_*3853insAAAAAAAAAAAAAAAAAAAAAA	PRPS2	ENSG00000101911.13	transcript	ENST00000380668.10	protein_coding		2427		chrX	TogoVar
PRPSAP2_chr17_18853131_18936287	18892727	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTTTATTTATT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG01081.hp1 others(17): Show HG00323.hp2 HG00423.hp2 HG01081.hp1 HG01255.hp2 HG01346.hp1 HG01978.hp2 HG03041.hp1 HG03225.hp1 HG03831.hp2 NA18944.hp2 NA18968.hp2 NA18971.hp1 NA18982.hp2 NA18985.hp1 NA18999.hp1 NA19004.hp1 NA19011.hp1 NA19057.hp1 NA19066.hp2 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0002 a0001c0002t0008	a0001c0002t0002g0037 a0001c0002t0002g0042 a0001c0002t0002g0050 others(17): Show a0001c0002t0002g0037 a0001c0002t0002g0042 a0001c0002t0002g0050 a0001c0002t0002g0057 a0001c0002t0002g0060 a0001c0002t0002g0064 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0085 a0001c0002t0002g0089 a0001c0002t0002g0093 a0001c0002t0002g0099 a0001c0002t0002g0113 a0001c0002t0002g0118 a0001c0002t0002g0124 a0001c0002t0008g0087	20	392	0.0510	22	c.584 others(39): Show c.584+2851_584+2852insGTGTGTGTGTGTTTATTTATTT	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRR12_chr19_49586182_49631439	49607361	G G	GCGCACAC others(15): Show GCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0041 a0002c0041	a0002c0041t0001 a0002c0041t0001	a0002c0041t0001g0037 a0002c0041t0001g0037	1	322	0.0031	22	c.477 others(41): Show c.4773+5444_4773+5445insGCACACACACACACACACACAC	PRR12	ENSG00000126464.15	transcript	ENST00000418929.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRR14L_chr22_31676347_31755132	31677604	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0065 a0002c0002t0003g0065	1	316	0.0032	22	c.79 others(33): Show c.7922_*7923insATATATATATATATATTTTTTT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding		3742		chr22	TogoVar
PRR16_chr5_120459300_120692314	120646048	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp1 NA19081.hp1 HG01993.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0030 a0001c0001t0002g0025 a0001c0001t0002g0030	2	170	0.0118	22	c.160 others(41): Show c.160-39900_160-39879dupATATATATATATATATATATAT	PRR16	ENSG00000184838.15	transcript	ENST00000407149.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRR23C_chr3_139037102_139049892	139047999	G G	GATATAGA others(15): Show GATATAGAGATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01070.hp1 HG02004.hp2 others(3): Show HG00609.hp2 HG01070.hp1 HG02004.hp2 NA18945.hp1 NA18987.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	426	0.0141	22	c.-33 others(33): Show c.-3380_-3379insATATATATATATATCTCTATAT	PRR23C	ENSG00000233701.3	transcript	ENST00000413199.1	protein_coding		3108		chr3	TogoVar
PRR27_chr4_70149237_70171609	70160443	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	444	0.0023	22	c.649 others(39): Show c.649-1142_649-1141insCTCTCTCTCTCTGTGTGTGTGT	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR27_chr4_70149237_70171609	70160443	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01081.hp1 others(16): Show HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01167.hp1 HG01516.hp2 HG01517.hp1 HG02015.hp1 HG03453.hp2 NA18945.hp1 NA18970.hp1 NA18975.hp2 NA18983.hp1 NA18994.hp1 NA19007.hp2 NA19011.hp2 NA19056.hp1 NA19060.hp2 NA19086.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0016 others(5): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0016 a0001c0001t0023 a0001c0001t0028 a0001c0001t0050 a0001c0001t0051 a0001c0001t0070	a0001c0001t0003g0022 a0001c0001t0003g0102 a0001c0001t0003g0104 others(8): Show a0001c0001t0003g0022 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0012g0012 a0001c0001t0016g0008 a0001c0001t0016g0012 a0001c0001t0023g0103 a0001c0001t0028g0062 a0001c0001t0050g0008 a0001c0001t0051g0008 a0001c0001t0070g0008	19	444	0.0428	22	c.649 others(39): Show c.649-1142_649-1141insCTCTCTCTCTGTGTGTGTGTGT	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR27_chr4_70149237_70171609	70160443	C C	CTCTCTCT others(15): Show CTCTCTCTCTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA18944.hp1 NA19000.hp2 others(1): Show HG00323.hp2 NA18944.hp1 NA19000.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0028	a0001c0001t0001g0138 a0001c0001t0003g0086 a0001c0001t0011g0137 others(1): Show a0001c0001t0001g0138 a0001c0001t0003g0086 a0001c0001t0011g0137 a0001c0001t0028g0106	4	444	0.0090	22	c.649 others(39): Show c.649-1142_649-1141insCTCTCTCTGTGTGTGTGTGTGT	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR27_chr4_70149237_70171609	70160443	C C	CTCTCTCT others(15): Show CTCTCTCTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0110 a0001c0001t0046g0110	1	444	0.0023	22	c.649 others(39): Show c.649-1142_649-1141insCTCTCTGTGTGTGTGTGTGTGT	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR27_chr4_70149237_70171609	70160443	C C	CTCTGTGT others(15): Show CTCTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0119 a0001c0001t0047g0119	1	444	0.0023	22	c.649 others(39): Show c.649-1142_649-1141insCTGTGTGTGTGTGTGTGTGTGT	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR27_chr4_70149237_70171609	70161156	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02615.hp1 HG01884.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0026 a0001c0001t0004 a0001c0001t0026	a0001c0001t0004g0231 a0001c0001t0026g0084 a0001c0001t0004g0231 a0001c0001t0026g0084	2	444	0.0045	22	c.649 others(37): Show c.649-427_649-406dupTATATATATATATATATATATA	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR5L_chr11_36291288_36470204	36372976	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0024 a0002c0004t0024	a0002c0004t0024g0126 a0002c0004t0024g0126	1	272	0.0037	22	c.-12 others(43): Show c.-125-28011_-125-27990dupGTGTGTGTGTGTGTGTGTGTGT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRR5L_chr11_36291288_36470204	36373735	T T	TACTTCTC others(15): Show TACTTCTCTTTACCAGGAAGTAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02451.hp2 others(12): Show HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02809.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp2 NA18522.hp1 NA19043.hp1 NA19240.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0002 a0002c0004 others(3): Show a0001c0001 a0001c0002 a0002c0004 a0003c0008 a0006c0012 a0007c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0019 a0001c0002t0001 a0001c0002t0005 a0002c0004t0004 a0003c0008t0001 a0006c0012t0002 a0007c0009t0004	a0001c0001t0001g0039 a0001c0001t0003g0142 a0001c0001t0004g0028 others(12): Show a0001c0001t0001g0039 a0001c0001t0003g0142 a0001c0001t0004g0028 a0001c0001t0004g0072 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0010g0193 a0001c0001t0019g0045 a0001c0002t0001g0184 a0001c0002t0005g0059 a0002c0004t0004g0181 a0003c0008t0001g0042 a0003c0008t0001g0101 a0006c0012t0002g0141 a0007c0009t0004g0194	15	272	0.0552	22	c.-12 others(43): Show c.-125-27261_-125-27240dupACTTCTCTTTACCAGGAAGTAC	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRRC2B_chr9_131389086_131505193	131418190	T T	TCATCATC others(15): Show TCATCATCTCTTCCTTCTAAAGC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	216	0.0046	22	c.-51 others(41): Show c.-51-11903_-51-11882dupCATCATCTCTTCCTTCTAAAGC	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131420453	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0005 a0005	a0005c0045 a0005c0045	a0005c0045t0001 a0005c0045t0001	a0005c0045t0001g0086 a0005c0045t0001g0086	1	216	0.0046	22	c.-51 others(39): Show c.-51-9640_-51-9639insCTTTCTTTCTTTCTTTCTTTCT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	216	0.0046	22	c.-51 others(39): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131420495	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0009 a0002c0010t0009	a0002c0010t0009g0188 a0002c0010t0009g0188	1	216	0.0046	22	c.-51 others(39): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131448543	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01261.hp2 HG02647.hp2 others(1): Show HG01099.hp2 HG01261.hp2 HG02647.hp2 homoSapiens_chm13v2.hp1	a0001 a0017 a0001 a0017	a0001c0001 a0017c0044 a0001c0001 a0017c0044	a0001c0001t0001 a0001c0001t0017 a0017c0044t0001 a0001c0001t0001 a0001c0001t0017 a0017c0044t0001	a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0017g0008 others(1): Show a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0017g0008 a0017c0044t0001g0173	4	216	0.0185	22	c.112 others(39): Show c.1120+745_1120+766dupAAAAAAAAAAAAAAAAAAAAAA	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131448543	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAACAAA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0211 a0005c0005t0002g0211	1	216	0.0046	22	c.112 others(39): Show c.1120+757_1120+758insCAAAAAAAAAAAAAAAAAAAAA	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2C_chr1_171480530_171598511	171569572	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0056 a0004c0004t0001g0056	1	336	0.0030	22	c.665 others(41): Show c.6651+1235_6651+1236insTATATATATATATATATATATA	PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRC2C_chr1_171480530_171598511	171569575	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01256.hp1 HG02257.hp2 others(14): Show HG00642.hp2 HG01256.hp1 HG02257.hp2 HG02922.hp2 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03471.hp2 NA18906.hp1 NA18944.hp1 NA18972.hp2 NA18975.hp1 NA19043.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA20129.hp1	a0003 a0004 a0013 others(2): Show a0003 a0004 a0013 a0016 a0018	a0003c0002 a0004c0004 a0013c0022 others(2): Show a0003c0002 a0004c0004 a0013c0022 a0016c0015 a0018c0016	a0003c0002t0003 a0004c0004t0001 a0013c0022t0001 others(2): Show a0003c0002t0003 a0004c0004t0001 a0013c0022t0001 a0016c0015t0003 a0018c0016t0009	a0003c0002t0003g0188 a0003c0002t0003g0189 a0003c0002t0003g0190 others(14): Show a0003c0002t0003g0188 a0003c0002t0003g0189 a0003c0002t0003g0190 a0003c0002t0003g0203 a0003c0002t0003g0218 a0003c0002t0003g0220 a0003c0002t0003g0290 a0003c0002t0003g0291 a0003c0002t0003g0292 a0003c0002t0003g0293 a0004c0004t0001g0048 a0004c0004t0001g0055 a0004c0004t0001g0064 a0004c0004t0001g0076 a0013c0022t0001g0078 a0016c0015t0003g0289 a0018c0016t0009g0009	17	336	0.0506	22	c.665 others(41): Show c.6651+1254_6651+1255insATATATATATATATATATATAT	PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRC2C_chr1_171480530_171598511	171575549	A A	ATTGGATT others(15): Show ATTGGATTTGGCTTTAGTTTGGT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0020 a0020	a0020c0013 a0020c0013	a0020c0013t0003 a0020c0013t0003	a0020c0013t0003g0214 a0020c0013t0003g0214	1	336	0.0030	22	c.695 others(39): Show c.6955+430_6955+451dupGGCTTTAGTTTGGTTTGGATTT	PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	25/34		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRG1_chrX_37344364_37462291	37376549	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01891.hp1 HG01891.hp2 others(15): Show HG01255.hp1 HG01891.hp1 HG01891.hp2 HG02145.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp1 HG03471.hp1 HG03490.hp1 HG03516.hp1 NA18980.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 others(15): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0201 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0198 a0001c0001t0004g0019 a0001c0001t0005g0076 a0001c0001t0005g0086	18	216	0.0833	22	c.-42 others(41): Show c.-42+27155_-42+27156insATATATATATATATATATATAT	PRRG1	ENSG00000130962.18	transcript	ENST00000378628.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar

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