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
PSMD3_chr17_39975807_40002959	40001511	AAAATAAA others(5): Show AAAATAAATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02280.hp1 HG02451.hp2 others(8): Show HG01109.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02818.hp2 HG03453.hp1 NA19001.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0002c0008 a0002c0011	a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 others(4): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0007t0001 a0002c0008t0001 a0002c0011t0001	a0001c0001t0002g0090 a0001c0002t0001g0043 a0001c0002t0001g0171 others(8): Show a0001c0001t0002g0090 a0001c0002t0001g0043 a0001c0002t0001g0171 a0001c0002t0003g0174 a0001c0002t0006g0169 a0001c0002t0006g0172 a0001c0007t0001g0184 a0001c0007t0001g0185 a0002c0008t0001g0043 a0002c0008t0001g0170 a0002c0011t0001g0173	11	418	0.0263	-12	c.39 others(23): Show c.3931_*3942delAAATAAATAAAT	PSMD3	ENSG00000108344.15	transcript	ENST00000264639.9	protein_coding		3553		chr17	TogoVar
PSMD3_chr17_39975807_40002959	40002421	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	418	0.0024	-12	c.48 others(23): Show c.4841_*4852delAAAAAAAAAAAA	PSMD3	ENSG00000108344.15	transcript	ENST00000264639.9	protein_coding		4463		chr17	TogoVar
PSMD4_chr1_151249734_151272479	151253953	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02056.hp2 HG02258.hp2 others(10): Show HG01884.hp2 HG02056.hp2 HG02258.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02738.hp1 HG02895.hp2 HG03139.hp2 HG03471.hp1 HG03540.hp1 HG06807.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0025 others(9): Show a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0002t0001g0005	13	420	0.0310	-12	c.-82 others(21): Show c.-829_-818delAAAAAAAAAAAA	PSMD4	ENSG00000159352.16	transcript	ENST00000368884.8	protein_coding		780		chr1	TogoVar
PSMD7_chr16_74291814_74311288	74300937	TGCTGGGC others(5): Show TGCTGGGCAAGTG	T T	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	448	0.0022	-12	c.167 others(27): Show c.167-114_167-103delGCTGGGCAAGTG	PSMD7	ENSG00000103035.11	transcript	ENST00000219313.9	protein_coding	2/6			chr16	TogoVar
PSMD9_chr12_121883790_121923297	121904639	TTTATTAT others(5): Show TTTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(116): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02602.hp2 HG02698.hp1 HG02735.hp2 HG03017.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18987.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19011.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0008 a0001c0001 a0002c0002 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0002 a0002c0002t0009 a0002c0002t0016 a0008c0008t0002	a0001c0001t0001g0028 a0001c0001t0001g0258 a0001c0001t0001g0280 others(94): Show a0001c0001t0001g0028 a0001c0001t0001g0258 a0001c0001t0001g0280 a0001c0001t0002g0327 a0001c0001t0004g0247 a0001c0001t0004g0297 a0001c0001t0004g0304 a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0009 a0002c0002t0002g0027 a0002c0002t0002g0029 a0002c0002t0002g0032 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0248 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0294 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0315 a0002c0002t0002g0316 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0330 a0002c0002t0002g0331 a0002c0002t0002g0332 a0002c0002t0002g0333 a0002c0002t0002g0335 a0002c0002t0002g0336 a0002c0002t0002g0337 a0002c0002t0002g0338 a0002c0002t0002g0340 a0002c0002t0002g0341 a0002c0002t0009g0029 a0002c0002t0009g0311 a0002c0002t0009g0314 a0002c0002t0009g0317 a0002c0002t0016g0002 a0002c0002t0016g0334 a0008c0008t0002g0026 a0008c0008t0002g0269 a0008c0008t0002g0326	119	398	0.2990	-12	c.555 others(29): Show c.555+1556_555+1567delATTATTATTATT	PSMD9	ENSG00000110801.14	transcript	ENST00000541212.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PSMD9_chr12_121883790_121923297	121912006	CTTATTTA others(5): Show CTTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(104): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02735.hp2 HG03017.hp1 HG03209.hp1 HG03225.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18973.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18987.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19011.hp2 NA19058.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19240.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0008 a0001c0001 a0002c0002 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0002c0002t0002 a0002c0002t0009 a0002c0002t0016 a0008c0008t0002	a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0221 others(81): Show a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0280 a0001c0001t0002g0327 a0001c0001t0004g0304 a0001c0001t0014g0194 a0001c0001t0014g0195 a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0009 a0002c0002t0002g0027 a0002c0002t0002g0029 a0002c0002t0002g0032 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0248 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0260 a0002c0002t0002g0262 a0002c0002t0002g0268 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0310 a0002c0002t0002g0313 a0002c0002t0002g0315 a0002c0002t0002g0316 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0330 a0002c0002t0002g0331 a0002c0002t0002g0332 a0002c0002t0002g0333 a0002c0002t0002g0335 a0002c0002t0002g0336 a0002c0002t0002g0337 a0002c0002t0002g0338 a0002c0002t0002g0340 a0002c0002t0009g0029 a0002c0002t0009g0311 a0002c0002t0009g0314 a0002c0002t0009g0317 a0002c0002t0016g0002 a0002c0002t0016g0334 a0008c0008t0002g0326	107	398	0.2688	-12	c.556 others(29): Show c.556-3807_556-3796delATTTATTTATTT	PSMD9	ENSG00000110801.14	transcript	ENST00000541212.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PSME4_chr2_53859069_53975993	53923913	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02965.hp2 HG03098.hp1 others(4): Show HG02559.hp2 HG02965.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03579.hp1	a0001 a0010 a0012 a0001 a0010 a0012	a0001c0007 a0010c0026 a0012c0024 a0001c0007 a0010c0026 a0012c0024	a0001c0007t0001 a0001c0007t0006 a0010c0026t0001 others(1): Show a0001c0007t0001 a0001c0007t0006 a0010c0026t0001 a0012c0024t0001	a0001c0007t0001g0361 a0001c0007t0006g0012 a0001c0007t0006g0014 others(4): Show a0001c0007t0001g0361 a0001c0007t0006g0012 a0001c0007t0006g0014 a0001c0007t0006g0196 a0001c0007t0006g0197 a0010c0026t0001g0013 a0012c0024t0001g0312	7	384	0.0182	-12	c.181 others(29): Show c.1810-506_1810-495delTTTTTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	14/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53933375	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0010 a0010	a0010c0026 a0010c0026	a0010c0026t0001 a0010c0026t0001	a0010c0026t0001g0013 a0010c0026t0001g0013	1	384	0.0026	-12	c.958 others(27): Show c.958-627_958-616delTTTTTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	8/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53967649	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0360 a0001c0009t0001g0360	1	384	0.0026	-12	c.242 others(29): Show c.242+2882_242+2893delTTTTTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	1/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53973853	ATATGTGT others(5): Show ATATGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0013 a0001c0009t0013	a0001c0009t0013g0292 a0001c0009t0013g0292	1	384	0.0026	-12	c.-30 others(23): Show c.-3081_-3070delCACACACACATA	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding		2861		chr2	TogoVar
PSME4_chr2_53859069_53975993	53973855	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02717.hp1 others(4): Show HG02257.hp2 HG02280.hp2 HG02717.hp1 HG02896.hp2 HG03139.hp1 HG03516.hp2 NA18906.hp2	a0001 a0001	a0001c0006 a0001c0009 a0001c0006 a0001c0009	a0001c0006t0003 a0001c0009t0001 a0001c0006t0003 a0001c0009t0001	a0001c0006t0003g0155 a0001c0006t0003g0168 a0001c0006t0003g0172 others(4): Show a0001c0006t0003g0155 a0001c0006t0003g0168 a0001c0006t0003g0172 a0001c0006t0003g0175 a0001c0009t0001g0360 a0001c0009t0001g0366 a0001c0009t0001g0367	7	384	0.0182	-12	c.-30 others(23): Show c.-3083_-3072delCACACACACACA	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding		2863		chr2	TogoVar
PSMF1_chr20_1113602_1177246	1147167	TCATCATC others(5): Show TCATCATCATCAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA21309.hp2 HG02055.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0052 a0001c0001t0001 a0001c0001t0052	a0001c0001t0001g0146 a0001c0001t0052g0145 a0001c0001t0001g0146 a0001c0001t0052g0145	2	326	0.0061	-12	c.551 others(31): Show c.551+11864_551+11875delTCATCATCACCA	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSPC1_chr13_19697500_19787945	19728439	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA21309.hp2 HG02647.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0141 a0001c0001t0007g0255 a0001c0001t0001g0141 a0001c0001t0007g0255	2	258	0.0078	-12	c.115 others(31): Show c.1158+1788_1158+1799delGTGTGTGTGTGT	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	6/8			chr13	TogoVar
PSPC1_chr13_19697500_19787945	19730953	AAAACAAA others(5): Show AAAACAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG02559.hp1 others(3): Show HG00735.hp1 HG01099.hp1 HG02559.hp1 HG02647.hp1 HG03540.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0002g0044 others(3): Show a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0120	6	258	0.0233	-12	c.105 others(29): Show c.1053-621_1053-610delGTTTTTTTGTTT	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	5/8			chr13	TogoVar
PSPC1_chr13_19697500_19787945	19778362	TCTCCCCC others(5): Show TCTCCCCCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG01169.hp2 others(3): Show HG01109.hp1 HG01167.hp1 HG01169.hp2 HG03710.hp1 HG03834.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 others(3): Show a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0165 a0001c0001t0001g0166	6	258	0.0233	-12	c.372 others(29): Show c.372+4012_372+4023delGGGGAGGGGGAG	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PSPC1_chr13_19697500_19787945	19787041	CAAATAAA others(5): Show CAAATAAATAAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG02559.hp1 HG02647.hp1 others(3): Show HG00735.hp1 HG02559.hp1 HG02647.hp1 HG02723.hp2 HG02970.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0045 others(3): Show a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0120	6	258	0.0233	-12	c.-42 others(23): Show c.-4296_-4285delATTTATTTATTT	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding		4097		chr13	TogoVar
PSTPIP2_chr18_45978536_46077260	46027297	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(98): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01517.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02148.hp2 HG02273.hp2 HG02280.hp2 HG02572.hp1 HG02647.hp2 HG02723.hp2 HG02886.hp1 HG02976.hp1 HG03098.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03579.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp2 NA18942.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18987.hp2 NA18992.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19082.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0002c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0011 a0002c0003t0002 a0002c0003t0017 a0002c0006t0002	a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0016 others(96): Show a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0128 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0003g0004 a0001c0001t0003g0267 a0001c0001t0003g0271 a0001c0001t0003g0273 a0001c0001t0003g0280 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0298 a0001c0001t0003g0301 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0007g0221 a0002c0002t0001g0106 a0002c0002t0002g0017 a0002c0002t0002g0022 a0002c0002t0002g0170 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0220 a0002c0002t0002g0249 a0002c0002t0002g0252 a0002c0002t0004g0305 a0002c0002t0011g0266 a0002c0003t0002g0018 a0002c0003t0002g0026 a0002c0003t0017g0025 a0002c0006t0002g0262	101	316	0.3196	-12	c.135 others(29): Show c.135-2623_135-2612delATTTATTTATTT	PSTPIP2	ENSG00000152229.18	transcript	ENST00000409746.5	protein_coding	2/14			chr18	TogoVar
PSTPIP2_chr18_45978536_46077260	46049007	CATGTGTG others(5): Show CATGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03471.hp1 NA20129.hp1 HG02895.hp1 HG03471.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0009 a0002c0003t0002 a0002c0003t0017 a0002c0002t0009 a0002c0003t0002 a0002c0003t0017	a0002c0002t0009g0024 a0002c0003t0002g0026 a0002c0003t0017g0025 a0002c0002t0009g0024 a0002c0003t0002g0026 a0002c0003t0017g0025	3	316	0.0095	-12	c.34- others(27): Show c.34-8972_34-8961delACACACACACAT	PSTPIP2	ENSG00000152229.18	transcript	ENST00000409746.5	protein_coding	1/14			chr18	TogoVar
PSTPIP2_chr18_45978536_46077260	46049008	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp2 HG03486.hp2 others(8): Show HG02572.hp2 HG02615.hp2 HG03486.hp2 NA18522.hp1 NA18949.hp1 NA18952.hp2 NA18957.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0002c0002t0002 a0001c0001t0001 a0001c0001t0007 a0002c0002t0002	a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 others(8): Show a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0206 a0001c0001t0001g0222 a0001c0001t0001g0239 a0001c0001t0001g0260 a0001c0001t0007g0221 a0002c0002t0002g0158	11	316	0.0348	-12	c.34- others(27): Show c.34-8973_34-8962delCACACACACACA	PSTPIP2	ENSG00000152229.18	transcript	ENST00000409746.5	protein_coding	1/14			chr18	TogoVar
PTAR1_chr9_69704525_69765011	69730602	CCCGGCAG others(5): Show CCCGGCAGCTATT	C C	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18980.hp2 NA18975.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	2	388	0.0052	-12	c.642 others(29): Show c.642+1525_642+1536delAATAGCTGCCGG	PTAR1	ENSG00000188647.13	transcript	ENST00000340434.5	protein_coding	5/7			chr9	TogoVar
PTBP2_chr1_96716784_96820049	96726074	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG01358.hp2 others(33): Show HG00423.hp2 HG00544.hp2 HG01358.hp2 HG01361.hp1 HG01884.hp2 HG02004.hp1 HG02027.hp1 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02293.hp2 HG02622.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03486.hp1 HG03516.hp1 HG04199.hp2 HG04228.hp2 NA18906.hp2 NA18943.hp1 NA18975.hp1 NA18978.hp1 NA19001.hp1 NA19006.hp1 NA19043.hp1 NA19074.hp1 NA19079.hp1 NA19081.hp2 NA19088.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0002t0001 a0001c0002t0008	a0001c0001t0001g0218 a0001c0001t0002g0157 a0001c0001t0002g0158 others(33): Show a0001c0001t0001g0218 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0007g0015 a0001c0001t0013g0219 a0001c0001t0014g0156 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0322 a0001c0002t0001g0346 a0001c0002t0001g0351 a0001c0002t0008g0321	36	364	0.0989	-12	c.39+ others(27): Show c.39+2506_39+2517delAAAAAAAAAAAA	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP2_chr1_96716784_96820049	96746871	GTCCCTCC others(5): Show GTCCCTCCCTCCC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01978.hp1 others(2): Show HG00639.hp1 HG00741.hp1 HG01978.hp1 HG02683.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0003g0038 a0001c0001t0003g0082 a0001c0001t0004g0041 others(2): Show a0001c0001t0003g0038 a0001c0001t0003g0082 a0001c0001t0004g0041 a0001c0001t0004g0047 a0001c0001t0006g0040	5	364	0.0137	-12	c.40- others(27): Show c.40-4520_40-4509delCCCTCCCTCCCT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP2_chr1_96716784_96820049	96746909	CCCTCCCT others(5): Show CCCTCCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp2 others(85): Show HG00099.hp2 HG00280.hp2 HG00423.hp2 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01952.hp2 HG02004.hp1 HG02015.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02293.hp2 HG02615.hp2 HG02698.hp2 HG03239.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18978.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18986.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp2 NA19062.hp2 NA19063.hp2 NA19072.hp2 NA19074.hp1 NA19079.hp1 NA19081.hp2 NA19083.hp2 NA19086.hp2 NA19088.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018	a0001c0001t0001g0162 a0001c0001t0001g0218 a0001c0001t0002g0017 others(85): Show a0001c0001t0001g0162 a0001c0001t0001g0218 a0001c0001t0002g0017 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0354 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0003g0138 a0001c0001t0010g0149 a0001c0001t0010g0203 a0001c0001t0010g0204 a0001c0001t0013g0219 a0001c0001t0015g0150 a0001c0001t0017g0226 a0001c0001t0018g0232	88	364	0.2418	-12	c.40- others(27): Show c.40-4512_40-4501delCCCTTCCTTCCT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP2_chr1_96716784_96820049	96761346	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19240.hp1 HG03209.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0002 a0001c0002t0005g0002	2	364	0.0055	-12	c.116 others(29): Show c.116-8325_116-8314delGTGTGTGTGTGT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP2_chr1_96716784_96820049	96791587	GAGGGGTT others(5): Show GAGGGGTTTTGAA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	364	0.0028	-12	c.904 others(29): Show c.904+6334_904+6345delAGGGGTTTTGAA	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13			chr1	TogoVar
PTBP3_chr9_112213435_112338619	112233272	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(28): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00639.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01109.hp2 HG01175.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp1 HG01993.hp1 HG02040.hp1 HG02083.hp1 HG02109.hp2 HG02486.hp1 HG02818.hp1 HG02818.hp2 HG03209.hp1 HG03490.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 NA18939.hp2 NA18981.hp1 NA19043.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0032	a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0116 others(28): Show a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0253 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0284 a0001c0001t0001g0310 a0001c0001t0006g0094 a0001c0001t0006g0098 a0001c0001t0006g0112 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0217 a0001c0001t0008g0301 a0001c0001t0008g0302 a0001c0001t0008g0303 a0001c0001t0025g0313 a0001c0001t0026g0158 a0001c0001t0030g0216 a0001c0001t0032g0312	31	342	0.0906	-12	c.881 others(29): Show c.881-1046_881-1035delACACACACACAC	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	8/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112239823	AAGGGAGG others(5): Show AAGGGAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0291 a0001c0001t0009g0291	1	342	0.0029	-12	c.803 others(29): Show c.803-4938_803-4927delCCCTTCCTCCCT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	7/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112239831	AAGGGAGG others(5): Show AAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG00733.hp2 others(96): Show HG00597.hp2 HG00609.hp2 HG00733.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01261.hp1 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02083.hp2 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02738.hp1 HG03225.hp1 HG03239.hp1 HG03490.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18612.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18963.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18974.hp2 NA18978.hp1 NA18990.hp1 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19030.hp2 NA19064.hp2 NA19067.hp2 NA19070.hp2 NA19075.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19087.hp1 NA19240.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0002c0003t0002	a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0249 others(96): Show a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0249 a0001c0001t0001g0329 a0001c0001t0002g0086 a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0137 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0250 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0285 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0342 a0001c0001t0004g0060 a0001c0001t0014g0071 a0001c0001t0014g0088 a0001c0001t0014g0090 a0001c0001t0018g0272 a0001c0001t0018g0330 a0001c0001t0019g0136 a0001c0001t0019g0177 a0001c0001t0020g0089 a0001c0001t0020g0091 a0001c0001t0022g0251 a0001c0001t0033g0287 a0001c0001t0034g0319 a0001c0001t0035g0130 a0001c0001t0036g0290 a0001c0001t0037g0314 a0002c0003t0002g0106	99	342	0.2895	-12	c.803 others(29): Show c.803-4946_803-4935delCCCTCCCTCCCT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	7/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112247268	TAATAAAT others(5): Show TAATAAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01109.hp1 HG01175.hp1 others(25): Show HG00673.hp1 HG01109.hp1 HG01175.hp1 HG01243.hp1 HG01891.hp2 HG02040.hp1 HG02074.hp1 HG02083.hp1 HG02965.hp1 HG03130.hp1 HG03453.hp1 HG03831.hp1 HG04199.hp1 NA18747.hp2 NA18906.hp1 NA18950.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA19000.hp1 NA19005.hp1 NA19009.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0014 a0001c0001t0020 a0001c0001t0034 a0001c0002t0001 a0001c0002t0003 a0001c0002t0011	a0001c0001t0001g0109 a0001c0001t0001g0189 a0001c0001t0001g0244 others(25): Show a0001c0001t0001g0109 a0001c0001t0001g0189 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0281 a0001c0001t0002g0132 a0001c0001t0010g0242 a0001c0001t0010g0278 a0001c0001t0010g0279 a0001c0001t0010g0280 a0001c0001t0014g0071 a0001c0001t0014g0088 a0001c0001t0014g0090 a0001c0001t0020g0089 a0001c0001t0020g0091 a0001c0001t0034g0319 a0001c0002t0001g0110 a0001c0002t0001g0191 a0001c0002t0001g0243 a0001c0002t0001g0266 a0001c0002t0003g0283 a0001c0002t0011g0188 a0001c0002t0011g0190 a0001c0002t0011g0192 a0001c0002t0011g0299	28	342	0.0819	-12	c.802 others(29): Show c.802+3649_802+3660delTATTTATTTATT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	7/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112271746	AAAAAAGA others(5): Show AAAAAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0239 a0001c0007t0001g0239	1	342	0.0029	-12	c.205 others(29): Show c.205-3563_205-3552delCTTTTTCTTTTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	3/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112290705	TATACACA others(5): Show TATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03831.hp1 NA18978.hp2 HG02074.hp1 HG03831.hp1 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0191 a0001c0002t0001g0266 a0001c0002t0003g0283 a0001c0002t0001g0191 a0001c0002t0001g0266 a0001c0002t0003g0283	3	342	0.0088	-12	c.34+ others(27): Show c.34+7115_34+7126delGTGTGTGTGTAT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	2/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112331082	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0319 a0001c0001t0034g0319	1	342	0.0029	-12	c.-52 others(29): Show c.-52+2376_-52+2387delGTGTGTGTGTGT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTCD3_chr2_86101235_86147157	86112411	GTAATCCC others(5): Show GTAATCCCATCAC	G G	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA19006.hp2 NA19063.hp1 others(1): Show NA18972.hp2 NA19006.hp2 NA19063.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 others(1): Show a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155	4	398	0.0101	-12	c.240 others(29): Show c.240+1267_240+1278delAATCCCATCACT	PTCD3	ENSG00000132300.19	transcript	ENST00000254630.12	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTCH1_chr9_95437980_95514266	95469321	ACCTGGTT others(5): Show ACCTGGTTCATCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0171 a0002c0001t0001g0171	1	284	0.0035	-12	c.184 others(29): Show c.1848-180_1848-169delCGATGAACCAGG	PTCH1	ENSG00000185920.19	transcript	ENST00000331920.11	protein_coding	13/23			chr9	TogoVar
PTCH1_chr9_95437980_95514266	95471082	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00738.hp2 HG01074.hp2 others(44): Show HG00597.hp1 HG00738.hp2 HG01074.hp2 HG01099.hp1 HG01167.hp1 HG01192.hp2 HG01255.hp2 HG01517.hp1 HG02027.hp1 HG02056.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02895.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03704.hp2 HG04184.hp1 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18962.hp2 NA18967.hp1 NA18968.hp1 NA18986.hp2 NA19000.hp2 NA19004.hp1 NA19043.hp2 NA19056.hp2 NA19064.hp2 NA19090.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0017 a0001c0002 a0001c0003 a0002c0017	a0001c0002t0021 a0001c0003t0001 a0001c0003t0002 others(10): Show a0001c0002t0021 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0012 a0001c0003t0013 a0001c0003t0020 a0001c0003t0031 a0001c0003t0035 a0001c0003t0042 a0002c0017t0004	a0001c0002t0021g0233 a0001c0003t0001g0001 a0001c0003t0001g0028 others(42): Show a0001c0002t0021g0233 a0001c0003t0001g0001 a0001c0003t0001g0028 a0001c0003t0001g0040 a0001c0003t0002g0215 a0001c0003t0002g0216 a0001c0003t0004g0025 a0001c0003t0004g0026 a0001c0003t0004g0027 a0001c0003t0004g0029 a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0004g0032 a0001c0003t0004g0033 a0001c0003t0004g0034 a0001c0003t0004g0035 a0001c0003t0004g0036 a0001c0003t0004g0037 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0004g0043 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0046 a0001c0003t0004g0047 a0001c0003t0004g0125 a0001c0003t0005g0038 a0001c0003t0005g0057 a0001c0003t0005g0059 a0001c0003t0005g0060 a0001c0003t0005g0061 a0001c0003t0008g0048 a0001c0003t0008g0055 a0001c0003t0008g0058 a0001c0003t0012g0003 a0001c0003t0013g0024 a0001c0003t0013g0049 a0001c0003t0013g0050 a0001c0003t0013g0054 a0001c0003t0020g0178 a0001c0003t0020g0182 a0001c0003t0031g0063 a0001c0003t0035g0183 a0001c0003t0042g0254 a0002c0017t0004g0039	47	284	0.1655	-12	c.172 others(31): Show c.1729-1163_1729-1152delTTTTTTTTTTTT	PTCH1	ENSG00000185920.19	transcript	ENST00000331920.11	protein_coding	12/23			chr9	TogoVar
PTCH1_chr9_95437980_95514266	95490520	GACACACA others(5): Show GACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01516.hp1 HG01517.hp2 others(3): Show HG01106.hp2 HG01516.hp1 HG01517.hp2 HG01975.hp1 HG02004.hp2 HG03490.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0002c0001t0003 others(1): Show a0001c0002t0001 a0002c0001t0001 a0002c0001t0003 a0002c0001t0017	a0001c0002t0001g0072 a0002c0001t0001g0070 a0002c0001t0001g0073 others(2): Show a0001c0002t0001g0072 a0002c0001t0001g0070 a0002c0001t0001g0073 a0002c0001t0003g0071 a0002c0001t0017g0004	6	284	0.0211	-12	c.395 others(29): Show c.395-4658_395-4647delGTGTGTGTGTGT	PTCH1	ENSG00000185920.19	transcript	ENST00000331920.11	protein_coding	2/23			chr9	TogoVar
PTCH1_chr9_95437980_95521971	95469321	ACCTGGTT others(5): Show ACCTGGTTCATCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0043 a0002c0001t0001g0043	1	278	0.0036	-12	c.184 others(29): Show c.1845-180_1845-169delCGATGAACCAGG	PTCH1	ENSG00000185920.19	transcript	ENST00000437951.6	protein_coding	13/23			chr9	TogoVar
PTCH1_chr9_95437980_95521971	95471082	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00738.hp2 HG01074.hp2 others(43): Show HG00597.hp1 HG00738.hp2 HG01074.hp2 HG01099.hp1 HG01167.hp1 HG01192.hp2 HG01255.hp2 HG01517.hp1 HG02027.hp1 HG02056.hp1 HG02109.hp2 HG02145.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02895.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03704.hp2 HG04184.hp1 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18962.hp2 NA18967.hp1 NA18968.hp1 NA18986.hp2 NA19000.hp2 NA19004.hp1 NA19043.hp2 NA19056.hp2 NA19064.hp2 NA19090.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0020 a0001c0002 a0001c0003 a0002c0020	a0001c0002t0003 a0001c0003t0001 a0001c0003t0003 others(10): Show a0001c0002t0003 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0013 a0001c0003t0023 a0001c0003t0030 a0001c0003t0031 a0001c0003t0034 a0001c0003t0037 a0002c0020t0003	a0001c0002t0003g0235 a0001c0003t0001g0007 a0001c0003t0001g0160 others(42): Show a0001c0002t0003g0235 a0001c0003t0001g0007 a0001c0003t0001g0160 a0001c0003t0001g0166 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0003g0110 a0001c0003t0003g0161 a0001c0003t0003g0162 a0001c0003t0003g0163 a0001c0003t0003g0164 a0001c0003t0003g0165 a0001c0003t0003g0167 a0001c0003t0003g0168 a0001c0003t0003g0169 a0001c0003t0003g0170 a0001c0003t0003g0171 a0001c0003t0003g0172 a0001c0003t0003g0174 a0001c0003t0003g0177 a0001c0003t0003g0179 a0001c0003t0003g0180 a0001c0003t0003g0181 a0001c0003t0003g0182 a0001c0003t0003g0183 a0001c0003t0004g0159 a0001c0003t0004g0196 a0001c0003t0004g0198 a0001c0003t0004g0199 a0001c0003t0004g0200 a0001c0003t0005g0197 a0001c0003t0005g0208 a0001c0003t0005g0210 a0001c0003t0008g0193 a0001c0003t0008g0194 a0001c0003t0008g0202 a0001c0003t0008g0203 a0001c0003t0013g0209 a0001c0003t0023g0038 a0001c0003t0023g0039 a0001c0003t0030g0173 a0001c0003t0031g0253 a0001c0003t0034g0068 a0001c0003t0037g0037 a0002c0020t0003g0178	46	278	0.1655	-12	c.172 others(31): Show c.1726-1163_1726-1152delTTTTTTTTTTTT	PTCH1	ENSG00000185920.19	transcript	ENST00000437951.6	protein_coding	12/23			chr9	TogoVar
PTCH1_chr9_95437980_95521971	95490520	GACACACA others(5): Show GACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01123.hp2 HG01516.hp1 others(4): Show HG01106.hp2 HG01123.hp2 HG01516.hp1 HG01517.hp2 HG01975.hp1 HG02004.hp2 HG03490.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 others(1): Show a0001c0002t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0014	a0001c0002t0001g0061 a0002c0001t0001g0056 a0002c0001t0001g0062 others(4): Show a0001c0002t0001g0061 a0002c0001t0001g0056 a0002c0001t0001g0062 a0002c0001t0002g0060 a0002c0001t0014g0057 a0002c0001t0014g0058 a0002c0001t0014g0059	7	278	0.0252	-12	c.392 others(29): Show c.392-4658_392-4647delGTGTGTGTGTGT	PTCH1	ENSG00000185920.19	transcript	ENST00000437951.6	protein_coding	2/23			chr9	TogoVar
PTCH2_chr1_44816938_44848253	44842274	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(156): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03540.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18972.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp2 NA19063.hp2 NA19068.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0010	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0012 a0001c0017 a0001c0019 a0001c0020 a0001c0021 a0001c0023 a0002c0004 a0002c0006 a0002c0009 a0002c0024 a0005c0022 a0006c0026 a0010c0013	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0007 a0001c0010t0002 a0001c0010t0006 a0001c0012t0001 a0001c0017t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0001 a0001c0023t0002 a0002c0004t0001 a0002c0006t0001 a0002c0009t0001 a0002c0024t0001 a0005c0022t0001 a0006c0026t0001 a0010c0013t0001	a0001c0001t0001g0012 a0001c0001t0001g0158 a0001c0001t0001g0159 others(111): Show a0001c0001t0001g0012 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0206 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0003g0049 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0152 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0219 a0001c0002t0001g0221 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0228 a0001c0002t0001g0230 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0003t0001g0013 a0001c0003t0001g0014 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0040 a0001c0003t0001g0041 a0001c0003t0001g0162 a0001c0003t0001g0163 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0173 a0001c0003t0001g0178 a0001c0003t0001g0183 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0003t0001g0188 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0193 a0001c0003t0001g0194 a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0202 a0001c0003t0001g0203 a0001c0003t0001g0205 a0001c0003t0001g0209 a0001c0003t0001g0211 a0001c0003t0001g0240 a0001c0003t0007g0243 a0001c0010t0002g0015 a0001c0010t0006g0242 a0001c0012t0001g0227 a0001c0012t0001g0229 a0001c0017t0001g0204 a0001c0019t0001g0198 a0001c0020t0001g0231 a0001c0021t0001g0218 a0001c0023t0002g0050 a0002c0004t0001g0008 a0002c0004t0001g0034 a0002c0004t0001g0132 a0002c0004t0001g0153 a0002c0004t0001g0155 a0002c0004t0001g0157 a0002c0004t0001g0166 a0002c0004t0001g0168 a0002c0004t0001g0169 a0002c0004t0001g0174 a0002c0004t0001g0175 a0002c0004t0001g0177 a0002c0004t0001g0179 a0002c0004t0001g0180 a0002c0004t0001g0184 a0002c0004t0001g0187 a0002c0004t0001g0189 a0002c0004t0001g0190 a0002c0004t0001g0208 a0002c0004t0001g0239 a0002c0006t0001g0160 a0002c0006t0001g0172 a0002c0006t0001g0207 a0002c0009t0001g0035 a0002c0009t0001g0154 a0002c0024t0001g0156 a0005c0022t0001g0176 a0006c0026t0001g0234 a0010c0013t0001g0210	159	370	0.4297	-12	c.73- others(25): Show c.73-247_73-236delAAAAAAAAAAAA	PTCH2	ENSG00000117425.14	transcript	ENST00000372192.4	protein_coding	1/21			chr1	TogoVar
PTCHD1_chrX_23329849_23409374	23342266	CTATATAT others(5): Show CTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18980.hp1 HG02071.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0147 a0001c0001t0005 a0001c0001t0147	a0001c0001t0005g0185 a0001c0001t0147g0184 a0001c0001t0005g0185 a0001c0001t0147g0184	2	297	0.0067	-12	c.351 others(29): Show c.351+7074_351+7085delATATATATATAT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23342300	ATATATAT others(5): Show ATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0173 a0001c0002t0006g0173	1	297	0.0034	-12	c.351 others(29): Show c.351+7076_351+7087delATATATATATTT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23354496	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0224 a0001c0002t0006g0224	1	297	0.0034	-12	c.351 others(31): Show c.351+19284_351+19295delTATATATATATA	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23364371	GACACACA others(5): Show GACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02622.hp1 HG01192.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0164 a0001c0001t0001 a0001c0001t0164	a0001c0001t0001g0016 a0001c0001t0164g0248 a0001c0001t0001g0016 a0001c0001t0164g0248	2	297	0.0067	-12	c.352 others(31): Show c.352-15187_352-15176delACACACACACAC	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23374280	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01243.hp1 HG01884.hp1 others(16): Show HG01070.hp1 HG01243.hp1 HG01884.hp1 HG02257.hp2 HG02615.hp2 HG02622.hp1 HG02818.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03209.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG06807.hp2 NA18906.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0008 a0001c0001t0010 a0001c0001t0026 others(13): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0026 a0001c0001t0103 a0001c0001t0108 a0001c0001t0114 a0001c0001t0131 a0001c0001t0142 a0001c0001t0162 a0001c0001t0164 a0001c0001t0167 a0001c0001t0173 a0001c0002t0009 a0001c0003t0008 a0001c0003t0033 a0001c0003t0172	a0001c0001t0008g0123 a0001c0001t0010g0008 a0001c0001t0010g0136 others(15): Show a0001c0001t0008g0123 a0001c0001t0010g0008 a0001c0001t0010g0136 a0001c0001t0010g0251 a0001c0001t0026g0119 a0001c0001t0103g0115 a0001c0001t0108g0263 a0001c0001t0114g0106 a0001c0001t0131g0196 a0001c0001t0142g0138 a0001c0001t0162g0129 a0001c0001t0164g0248 a0001c0001t0167g0125 a0001c0001t0173g0211 a0001c0002t0009g0002 a0001c0003t0008g0278 a0001c0003t0033g0275 a0001c0003t0172g0276	19	297	0.0640	-12	c.352 others(29): Show c.352-5293_352-5282delAAAAAAAAAAAA	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23387609	CACTCCCG others(5): Show CACTCCCGGCCCA	C C	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0125 a0001c0002t0125	a0001c0002t0125g0292 a0001c0002t0125g0292	1	297	0.0034	-12	c.101 others(31): Show c.1013-4920_1013-4909delCTCCCGGCCCAA	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23396988	TGCTATAA others(5): Show TGCTATAAAGACG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0003 a0001c0001t0096g0003	1	297	0.0034	-12	c.28 others(23): Show c.2805_*2816delCTATAAAGACGG	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	3/3	2805	INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23405667	AACACACA others(5): Show AACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01167.hp1 HG01346.hp2 others(23): Show HG00408.hp1 HG01167.hp1 HG01346.hp2 HG01891.hp1 HG01934.hp1 HG02083.hp1 HG02258.hp1 HG02683.hp2 HG02723.hp2 HG02922.hp2 HG03041.hp2 HG03540.hp2 HG03669.hp2 HG03942.hp1 HG04228.hp1 NA18944.hp1 NA18947.hp2 NA18949.hp1 NA18963.hp2 NA18972.hp2 NA18982.hp1 NA18989.hp1 NA19004.hp1 NA19010.hp1 NA19079.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(20): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0034 a0001c0001t0045 a0001c0001t0063 a0001c0001t0081 a0001c0001t0082 a0001c0001t0150 a0001c0001t0152 a0001c0001t0154 a0001c0001t0155 a0001c0001t0159 a0001c0001t0160 a0001c0002t0002 a0001c0002t0005 a0001c0002t0011 a0001c0002t0012 a0001c0002t0089 a0001c0002t0149 a0001c0003t0033 a0001c0005t0075	a0001c0001t0002g0006 a0001c0001t0002g0055 a0001c0001t0002g0068 others(23): Show a0001c0001t0002g0006 a0001c0001t0002g0055 a0001c0001t0002g0068 a0001c0001t0005g0183 a0001c0001t0005g0213 a0001c0001t0007g0255 a0001c0001t0011g0087 a0001c0001t0034g0111 a0001c0001t0045g0135 a0001c0001t0063g0221 a0001c0001t0081g0240 a0001c0001t0082g0231 a0001c0001t0150g0232 a0001c0001t0152g0178 a0001c0001t0154g0246 a0001c0001t0155g0112 a0001c0001t0159g0151 a0001c0001t0160g0019 a0001c0002t0002g0229 a0001c0002t0005g0029 a0001c0002t0011g0293 a0001c0002t0012g0046 a0001c0002t0089g0073 a0001c0002t0149g0235 a0001c0003t0033g0275 a0001c0005t0075g0076	26	297	0.0875	-12	c.11 others(25): Show c.11483_*11494delACACACACACAC	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding		1294		chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23405738	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG02004.hp1 HG02165.hp2 HG00408.hp2 HG02004.hp1 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0110 a0001c0001t0111 a0001c0002t0017 a0001c0001t0110 a0001c0001t0111 a0001c0002t0017	a0001c0001t0110g0233 a0001c0001t0111g0072 a0001c0002t0017g0164 a0001c0001t0110g0233 a0001c0001t0111g0072 a0001c0002t0017g0164	3	297	0.0101	-12	c.11 others(25): Show c.11554_*11565delGTGTGTGTGTGT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding		1365		chrX	TogoVar
PTCHD4_chr6_47851673_48116197	47897940	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0129 a0001c0003t0023g0129	1	182	0.0055	-12	c.899 others(31): Show c.899-18016_899-18005delAAAAAAAAAAAA	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	4/4			chr6	TogoVar

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