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
PLXNB3_chrX_153759249_153784341	153776701	TGGGGCGG others(5): Show TGGGGCGGGGATG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00544.hp1 others(130): Show HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01175.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02683.hp1 HG02735.hp1 HG02818.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18973.hp2 NA18974.hp1 NA18979.hp2 NA18984.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19067.hp1 NA19074.hp1 NA19076.hp1 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0006 others(12): Show a0001 a0002 a0006 a0007 a0011 a0012 a0013 a0020 a0022 a0023 a0025 a0028 a0029 a0030 a0031	a0001c0001 a0001c0007 a0001c0016 others(25): Show a0001c0001 a0001c0007 a0001c0016 a0001c0022 a0001c0023 a0001c0025 a0001c0030 a0001c0044 a0001c0047 a0001c0050 a0001c0055 a0001c0057 a0002c0008 a0002c0014 a0006c0019 a0007c0051 a0007c0052 a0011c0017 a0012c0027 a0013c0032 a0020c0056 a0022c0043 a0023c0045 a0025c0041 a0028c0029 a0029c0026 a0030c0058 a0031c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0007t0001 a0001c0016t0001 a0001c0022t0001 a0001c0023t0001 a0001c0025t0001 a0001c0030t0001 a0001c0044t0001 a0001c0047t0002 a0001c0050t0001 a0001c0055t0002 a0001c0057t0001 a0002c0008t0001 a0002c0014t0001 a0002c0014t0002 a0006c0019t0001 a0007c0051t0001 a0007c0052t0001 a0011c0017t0001 a0012c0027t0001 a0013c0032t0004 a0020c0056t0001 a0022c0043t0001 a0023c0045t0006 a0025c0041t0010 a0028c0029t0001 a0029c0026t0001 a0030c0058t0001 a0031c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0016 others(64): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0002g0126 a0001c0001t0005g0001 a0001c0001t0011g0054 a0001c0007t0001g0023 a0001c0007t0001g0044 a0001c0007t0001g0045 a0001c0016t0001g0001 a0001c0016t0001g0074 a0001c0022t0001g0121 a0001c0023t0001g0042 a0001c0025t0001g0083 a0001c0030t0001g0001 a0001c0044t0001g0076 a0001c0047t0002g0040 a0001c0050t0001g0021 a0001c0055t0002g0040 a0001c0057t0001g0001 a0002c0008t0001g0015 a0002c0014t0001g0102 a0002c0014t0002g0123 a0006c0019t0001g0001 a0007c0051t0001g0033 a0007c0052t0001g0111 a0011c0017t0001g0058 a0011c0017t0001g0073 a0012c0027t0001g0033 a0013c0032t0004g0085 a0020c0056t0001g0001 a0022c0043t0001g0001 a0023c0045t0006g0080 a0025c0041t0010g0056 a0028c0029t0001g0070 a0029c0026t0001g0001 a0030c0058t0001g0052 a0031c0021t0001g0084	133	308	0.4318	-12	c.483 others(29): Show c.4834-181_4834-170delCGGGGATGGGGG	PLXNB3	ENSG00000198753.12	transcript	ENST00000361971.10	protein_coding	28/35		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLXNC1_chr12_94143577_94312675	94164661	GCACACAC others(5): Show GCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01167.hp2 HG01496.hp1 others(6): Show HG00140.hp1 HG01167.hp2 HG01496.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG03704.hp1 NA18612.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0012	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0009t0001 a0001c0012t0002	a0001c0001t0002g0037 a0001c0001t0002g0046 a0001c0002t0001g0193 others(6): Show a0001c0001t0002g0037 a0001c0001t0002g0046 a0001c0002t0001g0193 a0001c0002t0001g0251 a0001c0002t0001g0296 a0001c0002t0002g0295 a0001c0003t0001g0068 a0001c0009t0001g0212 a0001c0012t0002g0250	9	298	0.0302	-12	c.106 others(31): Show c.1063-4458_1063-4447delACACACACACAC	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLXNC1_chr12_94143577_94312675	94166524	GTATTATT others(5): Show GTATTATTATTAT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0007 a0007	a0007c0033 a0007c0033	a0007c0033t0001 a0007c0033t0001	a0007c0033t0001g0050 a0007c0033t0001g0050	1	298	0.0034	-12	c.106 others(31): Show c.1063-2596_1063-2585delTTATTATTATTA	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLXNC1_chr12_94143577_94312675	94182859	GTATCTAT others(5): Show GTATCTATCTATC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0189 a0001c0002t0004g0189	1	298	0.0034	-12	c.133 others(31): Show c.1338+1316_1338+1327delTATCTATCTATC	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLXNC1_chr12_94143577_94312675	94201748	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA18989.hp1 HG01069.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0011 a0001c0001t0001 a0001c0002t0011	a0001c0001t0001g0074 a0001c0002t0011g0113 a0001c0001t0001g0074 a0001c0002t0011g0113	2	298	0.0067	-12	c.144 others(31): Show c.1440-7815_1440-7804delTTTTTTTTTTTT	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLXNC1_chr12_94143577_94312675	94219803	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00544.hp1 others(118): Show HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18962.hp2 NA18967.hp1 NA18973.hp1 NA18977.hp2 NA18988.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19007.hp1 NA19010.hp1 NA19030.hp2 NA19063.hp1 NA19063.hp2 NA19076.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(29): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0018 a0001c0028 a0001c0034 a0001c0035 a0001c0037 a0001c0044 a0002c0015 a0002c0016 a0002c0019 a0002c0020 a0002c0021 a0002c0030 a0002c0040 a0003c0017 a0003c0032 a0004c0022 a0004c0041 a0004c0042 a0006c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0003t0001 a0001c0003t0005 a0001c0003t0017 a0001c0004t0001 a0001c0004t0003 a0001c0004t0005 a0001c0004t0006 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0007t0001 a0001c0007t0003 a0001c0008t0001 a0001c0008t0004 a0001c0009t0001 a0001c0009t0003 a0001c0011t0002 a0001c0012t0002 a0001c0013t0001 a0001c0013t0002 a0001c0014t0003 a0001c0018t0001 a0001c0018t0011 a0001c0028t0001 a0001c0034t0001 a0001c0035t0001 a0001c0037t0001 a0001c0044t0001 a0002c0015t0001 a0002c0016t0001 a0002c0019t0001 a0002c0020t0001 a0002c0020t0003 a0002c0021t0001 a0002c0021t0002 a0002c0030t0003 a0002c0040t0002 a0003c0017t0001 a0003c0017t0005 a0003c0032t0002 a0004c0022t0001 a0004c0041t0001 a0004c0042t0001 a0006c0029t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0020 others(118): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0112 a0001c0001t0001g0134 a0001c0001t0001g0161 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0002g0131 a0001c0001t0003g0135 a0001c0001t0003g0160 a0001c0001t0004g0019 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0006g0140 a0001c0001t0007g0088 a0001c0001t0015g0064 a0001c0002t0001g0071 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0089 a0001c0002t0001g0101 a0001c0002t0001g0139 a0001c0002t0001g0159 a0001c0002t0001g0180 a0001c0002t0001g0183 a0001c0002t0001g0187 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0215 a0001c0002t0001g0249 a0001c0002t0002g0205 a0001c0002t0004g0107 a0001c0002t0006g0297 a0001c0003t0001g0011 a0001c0003t0001g0056 a0001c0003t0001g0058 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0081 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0145 a0001c0003t0001g0170 a0001c0003t0001g0276 a0001c0003t0001g0277 a0001c0003t0001g0285 a0001c0003t0001g0288 a0001c0003t0005g0022 a0001c0003t0005g0281 a0001c0003t0005g0282 a0001c0003t0005g0283 a0001c0003t0005g0291 a0001c0003t0017g0156 a0001c0004t0001g0108 a0001c0004t0001g0152 a0001c0004t0001g0178 a0001c0004t0001g0219 a0001c0004t0001g0243 a0001c0004t0003g0226 a0001c0004t0005g0209 a0001c0004t0006g0066 a0001c0005t0001g0231 a0001c0005t0002g0070 a0001c0005t0002g0192 a0001c0005t0002g0210 a0001c0005t0002g0268 a0001c0006t0001g0077 a0001c0007t0001g0012 a0001c0007t0003g0060 a0001c0008t0001g0287 a0001c0008t0004g0286 a0001c0009t0001g0212 a0001c0009t0001g0247 a0001c0009t0001g0248 a0001c0009t0003g0237 a0001c0011t0002g0003 a0001c0011t0002g0048 a0001c0011t0002g0096 a0001c0012t0002g0214 a0001c0012t0002g0250 a0001c0013t0001g0203 a0001c0013t0002g0195 a0001c0013t0002g0265 a0001c0014t0003g0262 a0001c0018t0001g0057 a0001c0018t0011g0177 a0001c0028t0001g0055 a0001c0034t0001g0194 a0001c0035t0001g0234 a0001c0037t0001g0200 a0001c0044t0001g0172 a0002c0015t0001g0261 a0002c0016t0001g0257 a0002c0019t0001g0059 a0002c0019t0001g0171 a0002c0020t0001g0031 a0002c0020t0003g0054 a0002c0021t0001g0014 a0002c0021t0002g0015 a0002c0030t0003g0063 a0002c0040t0002g0258 a0003c0017t0001g0045 a0003c0017t0005g0294 a0003c0032t0002g0211 a0004c0022t0001g0111 a0004c0022t0001g0133 a0004c0041t0001g0179 a0004c0042t0001g0049 a0006c0029t0001g0090	121	298	0.4060	-12	c.155 others(29): Show c.1555-179_1555-168delTTATTTATTTAT	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	5/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLXNC1_chr12_94143577_94312675	94256844	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0073 a0001c0027t0001g0073	1	298	0.0034	-12	c.308 others(31): Show c.3087+1557_3087+1568delAAAAAAAAAAAA	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLXND1_chr3_129550214_129611676	129605284	CCCGCCGC others(5): Show CCCGCCGCCGCCG	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18995.hp1 NA19057.hp2 HG03710.hp2 NA18995.hp1 NA19057.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0300 a0002c0003t0003g0301 a0002c0003t0003g0302 a0002c0003t0003g0300 a0002c0003t0003g0301 a0002c0003t0003g0302	3	416	0.0072	-12	c.131 others(27): Show c.1311+33_1311+44delCGGCGGCGGCGG	PLXND1	ENSG00000004399.13	transcript	ENST00000324093.9	protein_coding	1/35			chr3	TogoVar
PMAIP1_chr18_59894996_59909305	59899888	CGGGGCGG others(5): Show CGGGGCGGGGACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG02886.hp2 HG01081.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0001 a0001c0001t0001g0023	2	458	0.0044	-12	c.-28 others(21): Show c.-289_-278delGGGGCGGGGACA	PMAIP1	ENSG00000141682.12	transcript	ENST00000316660.7	protein_coding		107		chr18	TogoVar
PMEL_chr12_55949105_55971042	55970288	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02622.hp2 HG02723.hp1 others(9): Show HG01109.hp1 HG02622.hp2 HG02723.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03540.hp1 NA18522.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0038 a0001c0001t0001g0187 a0002c0004t0001g0013 others(5): Show a0001c0001t0001g0038 a0001c0001t0001g0187 a0002c0004t0001g0013 a0002c0004t0001g0122 a0002c0004t0001g0123 a0002c0004t0001g0131 a0002c0004t0001g0176 a0002c0004t0001g0189	12	396	0.0303	-12	c.-42 others(23): Show c.-4289_-4278delTTTTTTTTTTTT	PMEL	ENSG00000185664.15	transcript	ENST00000548747.6	protein_coding		4247		chr12	TogoVar
PMEPA1_chr20_57643396_57715015	57669142	CATTTATT others(5): Show CATTTATTTATTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG00738.hp2 others(26): Show HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG02109.hp1 HG02145.hp1 HG02148.hp1 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03540.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0005 a0001c0001t0009 a0001c0001t0032 others(16): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0032 a0001c0002t0001 a0001c0002t0005 a0001c0002t0009 a0001c0002t0026 a0001c0002t0039 a0001c0003t0001 a0001c0003t0004 a0001c0003t0006 a0001c0003t0044 a0002c0004t0001 a0002c0004t0008 a0002c0004t0011 a0002c0004t0017 a0002c0004t0019 a0002c0004t0030 a0002c0004t0050	a0001c0001t0005g0304 a0001c0001t0009g0204 a0001c0001t0032g0043 others(25): Show a0001c0001t0005g0304 a0001c0001t0009g0204 a0001c0001t0032g0043 a0001c0002t0001g0330 a0001c0002t0005g0054 a0001c0002t0009g0145 a0001c0002t0026g0028 a0001c0002t0039g0083 a0001c0003t0001g0017 a0001c0003t0001g0040 a0001c0003t0004g0206 a0001c0003t0006g0045 a0001c0003t0006g0159 a0001c0003t0006g0196 a0001c0003t0006g0325 a0001c0003t0006g0326 a0001c0003t0044g0174 a0002c0004t0001g0207 a0002c0004t0008g0120 a0002c0004t0011g0029 a0002c0004t0011g0064 a0002c0004t0017g0036 a0002c0004t0017g0139 a0002c0004t0017g0324 a0002c0004t0019g0158 a0002c0004t0019g0205 a0002c0004t0030g0024 a0002c0004t0050g0188	29	360	0.0806	-12	c.110 others(29): Show c.110-9457_110-9446delAAATAAATAAAT	PMEPA1	ENSG00000124225.16	transcript	ENST00000341744.8	protein_coding	1/3			chr20	TogoVar
PMEPA1_chr20_57643396_57715015	57714932	CGCCGTCC others(5): Show CGCCGTCCCCCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0016 a0001c0002t0002g0016	1	360	0.0028	-12	c.-53 others(23): Show c.-5362_-5351delCAGGGGGACGGC	PMEPA1	ENSG00000124225.16	transcript	ENST00000341744.8	protein_coding		4918		chr20	TogoVar
PMF1_chr1_156208007_156245042	156231216	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02523.hp1 HG02523.hp2 others(1): Show HG02071.hp1 HG02523.hp1 HG02523.hp2 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0306 a0001c0001t0001g0307 others(1): Show a0001c0001t0001g0166 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308	4	364	0.0110	-12	c.162 others(29): Show c.162-1088_162-1077delAAAAAAAAAAAA	PMF1	ENSG00000160783.19	transcript	ENST00000368277.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
PMF1_chr1_156208007_156245042	156243741	TTAGTCGT others(5): Show TTAGTCGTGTTAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0086 a0002c0002t0001g0086	1	364	0.0028	-12	c.41 others(23): Show c.4141_*4152delTAGTCGTGTTAG	PMF1	ENSG00000160783.19	transcript	ENST00000368277.3	protein_coding		3700		chr1	TogoVar
PMFBP1_chr16_72114097_72177155	72115442	TGTGTAGT others(5): Show TGTGTAGTTTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0100 a0001c0012t0001g0100	1	344	0.0029	-12	c.38 others(23): Show c.3884_*3895delCACAAACTACAC	PMFBP1	ENSG00000118557.16	transcript	ENST00000237353.15	protein_coding		3654		chr16	TogoVar
PML_chr15_73989716_74052827	74048576	GCACCCCC others(5): Show GCACCCCCCCTCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0188 a0001c0004t0003g0188	1	342	0.0029	-12	c.35 others(23): Show c.3569_*3580delCACCCCCCCTCC	PML	ENSG00000140464.20	transcript	ENST00000268058.8	protein_coding		750		chr15	TogoVar
PMM1_chr22_41571900_41594840	41572343	TCCACCCA others(5): Show TCCACCCACCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00741.hp2 others(25): Show HG00280.hp1 HG00438.hp2 HG00741.hp2 HG01261.hp2 HG01358.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG02818.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03239.hp1 HG03579.hp2 HG03688.hp2 HG03834.hp1 HG06807.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0003c0004t0001 a0001c0001t0001 a0001c0001t0002 a0003c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 others(18): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0002g0007 a0003c0004t0001g0035	28	330	0.0849	-12	c.49 others(23): Show c.4963_*4974delGTGGGTGGGTGG	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4556		chr22	TogoVar
PMM1_chr22_41571900_41594840	41572379	CCCACCCA others(5): Show CCCACCCACCCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	330	0.0030	-12	c.49 others(23): Show c.4927_*4938delATGGGTGGGTGG	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4520		chr22	TogoVar
PMM1_chr22_41571900_41594840	41572387	CCCATCCA others(5): Show CCCATCCATCCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02559.hp2 HG02970.hp1 others(2): Show HG01109.hp2 HG02559.hp2 HG02970.hp1 HG03453.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0058 a0001c0001t0001g0059 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0143	5	330	0.0152	-12	c.49 others(23): Show c.4919_*4930delATGGATGGATGG	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4512		chr22	TogoVar
PMM1_chr22_41571900_41594840	41585463	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	330	0.0030	-12	c.205 others(27): Show c.205+601_205+612delTAAATAAATAAA	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding	2/7			chr22	TogoVar
PMM1_chr22_41571900_41594840	41594413	GGGTGGGG others(5): Show GGGTGGGGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	330	0.0030	-12	c.-46 others(23): Show c.-4620_-4609delGCCCCCCCCACC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4574		chr22	TogoVar
PMM2_chr16_8792839_8854325	8827719	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00621.hp1 others(14): Show HG00408.hp2 HG00438.hp2 HG00621.hp1 HG02027.hp2 HG02040.hp2 HG02165.hp1 HG02622.hp1 HG03239.hp2 NA18948.hp2 NA18956.hp2 NA18997.hp1 NA19000.hp2 NA19005.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0004c0003t0003	a0001c0001t0001g0337 a0001c0001t0003g0049 a0001c0001t0003g0340 others(13): Show a0001c0001t0001g0337 a0001c0001t0003g0049 a0001c0001t0003g0340 a0001c0001t0003g0342 a0001c0001t0003g0344 a0001c0001t0003g0348 a0001c0001t0003g0350 a0001c0001t0003g0351 a0001c0001t0003g0368 a0001c0001t0003g0377 a0001c0001t0011g0332 a0001c0001t0011g0343 a0001c0001t0011g0349 a0004c0003t0003g0010 a0004c0003t0003g0335 a0004c0003t0003g0336	17	408	0.0417	-12	c.639 others(31): Show c.639+14644_639+14655delATATATATATAT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
PMM2_chr16_8792839_8854325	8851977	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02818.hp1 HG02257.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0032 a0001c0001t0004 a0001c0001t0032	a0001c0001t0004g0304 a0001c0001t0032g0209 a0001c0001t0004g0304 a0001c0001t0032g0209	2	408	0.0049	-12	c.41 others(23): Show c.4153_*4164delTTTTTTTTTTTT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding		2653		chr16	TogoVar
PMP22_chr17_15224779_15270326	15252396	TTGCTGCT others(5): Show TTGCTGCTGCTGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(267): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19072.hp2 NA19074.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19086.hp1 NA19087.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0004 a0001c0001 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0002c0003t0001 a0003c0004t0006	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(210): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0308 a0001c0001t0002g0101 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0200 a0001c0001t0002g0278 a0001c0001t0002g0293 a0001c0001t0003g0010 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0061 a0001c0001t0003g0064 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0119 a0001c0001t0003g0124 a0001c0001t0003g0130 a0001c0001t0003g0138 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0199 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0004g0026 a0001c0001t0004g0031 a0001c0001t0004g0060 a0001c0001t0004g0083 a0001c0001t0004g0133 a0001c0001t0004g0182 a0001c0001t0005g0005 a0001c0001t0005g0013 a0001c0001t0005g0032 a0001c0001t0005g0044 a0001c0001t0005g0178 a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0297 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0005g0307 a0001c0001t0006g0033 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0050 a0001c0001t0006g0051 a0001c0001t0006g0055 a0001c0001t0006g0056 a0001c0001t0006g0057 a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0066 a0001c0001t0006g0097 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0168 a0001c0001t0006g0169 a0001c0001t0006g0172 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0006g0187 a0001c0001t0006g0188 a0001c0001t0006g0207 a0001c0001t0006g0208 a0001c0001t0006g0211 a0001c0001t0006g0219 a0001c0001t0006g0220 a0001c0001t0006g0221 a0001c0001t0007g0019 a0001c0001t0007g0154 a0001c0001t0007g0167 a0001c0001t0007g0170 a0001c0001t0007g0171 a0001c0001t0007g0173 a0001c0001t0007g0179 a0001c0001t0007g0209 a0001c0001t0007g0212 a0001c0001t0007g0268 a0001c0001t0008g0006 a0001c0001t0008g0092 a0001c0001t0008g0093 a0001c0001t0008g0111 a0001c0001t0008g0113 a0001c0001t0009g0313 a0001c0001t0009g0314 a0001c0001t0009g0315 a0001c0001t0010g0309 a0001c0001t0010g0311 a0001c0001t0011g0310 a0001c0001t0011g0312 a0001c0001t0013g0125 a0001c0001t0015g0198 a0001c0001t0016g0068 a0001c0001t0017g0151 a0001c0001t0018g0316 a0002c0003t0001g0065 a0003c0004t0006g0047	270	426	0.6338	-12	c.178 others(29): Show c.178+6686_178+6697delGCAGCAGCAGCA	PMP22	ENSG00000109099.16	transcript	ENST00000312280.9	protein_coding	3/4			chr17	TogoVar
PMP2_chr8_81435326_81452439	81441520	CTCTATCT others(5): Show CTCTATCTATCTA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp1 HG02922.hp2 HG03041.hp2 others(1): Show HG02451.hp1 HG02922.hp2 HG03041.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0038 a0001c0002t0033 a0001c0002t0048 a0001c0001t0038 a0001c0002t0033 a0001c0002t0048	a0001c0001t0038g0068 a0001c0002t0033g0034 a0001c0002t0048g0050 a0001c0001t0038g0068 a0001c0002t0033g0034 a0001c0002t0048g0050	4	428	0.0094	-12	c.18 others(23): Show c.1866_*1877delTAGATAGATAGA	PMP2	ENSG00000147588.7	transcript	ENST00000256103.3	protein_coding	4/4	1866		chr8	TogoVar
PMS1_chr2_189779450_189882629	189792688	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03491.hp1 HG03710.hp1 others(6): Show HG03225.hp1 HG03491.hp1 HG03710.hp1 HG04115.hp1 NA18939.hp2 NA18951.hp2 NA18983.hp2 NA19079.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(6): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026	9	234	0.0385	-12	c.132 others(27): Show c.132+768_132+779delATATATATATAT	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189864683	AAAAAATA others(5): Show AAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	234	0.0043	-12	c.234 others(29): Show c.2342+457_2342+468delAAAATATATATA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189864685	AAAATATA others(5): Show AAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	234	0.0043	-12	c.234 others(29): Show c.2342+459_2342+470delAATATATATATA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189864687	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp2 HG03942.hp2 HG02280.hp2 HG02717.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0001g0016 a0001c0001t0002g0034 a0001c0001t0002g0037	3	234	0.0128	-12	c.234 others(29): Show c.2342+496_2342+507delATATATATATAT	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS2_chr7_5965925_6014049	6007103	ATTATTAT others(5): Show ATTATTATTATTG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0098 a0001c0002t0036g0098	1	408	0.0025	-12	c.24- others(27): Show c.24-1084_24-1073delCAATAATAATAA	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding	1/14			chr7	TogoVar
PMS2_chr7_5965925_6014049	6010441	GTTTTTTG others(5): Show GTTTTTTGTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18963.hp2 NA18947.hp2 NA18963.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0183 a0002c0001t0001g0185 a0002c0001t0001g0183 a0002c0001t0001g0185	2	408	0.0049	-12	c.-14 others(23): Show c.-1434_-1423delAAAAACAAAAAA	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		1393		chr7	TogoVar
PMVK_chr1_154919740_154941719	154928774	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03453.hp2 HG02735.hp2 HG03453.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0001 a0006c0011t0001 a0001c0001t0001 a0006c0011t0001	a0001c0001t0001g0081 a0006c0011t0001g0145 a0001c0001t0001g0081 a0006c0011t0001g0145	2	294	0.0068	-12	c.312 others(27): Show c.312+238_312+249delATTTATTTATTT	PMVK	ENSG00000163344.6	transcript	ENST00000368467.4	protein_coding	3/4			chr1	TogoVar
PMVK_chr1_154919740_154941719	154935058	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02965.hp2 HG02258.hp2 HG02965.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0139 a0002c0003t0001g0140	2	294	0.0068	-12	c.95+ others(27): Show c.95+1521_95+1532delTTTTTTTTTTTT	PMVK	ENSG00000163344.6	transcript	ENST00000368467.4	protein_coding	1/4			chr1	TogoVar
PMVK_chr1_154919740_154941719	154939737	TGATCCAC others(5): Show TGATCCACCTAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	294	0.0034	-12	c.-30 others(23): Show c.-3064_-3053delTCTAGGTGGATC	PMVK	ENSG00000163344.6	transcript	ENST00000368467.4	protein_coding		3019		chr1	TogoVar
PNISR_chr6_99393050_99430308	99413391	TATCCATC others(5): Show TATCCATCCATCC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03688.hp1 HG03710.hp1 HG03453.hp2 HG03688.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0200 a0001c0001t0002g0221 a0001c0001t0002g0182 a0001c0001t0002g0200 a0001c0001t0002g0221	3	406	0.0074	-12	c.89- others(25): Show c.89-664_89-653delGGATGGATGGAT	PNISR	ENSG00000132424.17	transcript	ENST00000369239.10	protein_coding	3/11			chr6	TogoVar
PNISR_chr6_99393050_99430308	99413426	CCATCCAT others(5): Show CCATCCATCCATT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0049 a0001c0001t0004g0049	1	406	0.0025	-12	c.89- others(25): Show c.89-699_89-688delAATGGATGGATG	PNISR	ENSG00000132424.17	transcript	ENST00000369239.10	protein_coding	3/11			chr6	TogoVar
PNISR_chr6_99393050_99430308	99419179	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00544.hp1 others(16): Show HG00140.hp2 HG00280.hp2 HG00544.hp1 HG01993.hp2 HG02074.hp2 HG02257.hp1 HG02895.hp2 HG03017.hp2 HG03490.hp1 HG04204.hp1 NA18940.hp1 NA18942.hp2 NA18967.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp2 NA18992.hp2 NA19043.hp1 NA19055.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0008 a0001c0001 a0002c0002 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0008c0008t0004	a0001c0001t0001g0027 a0001c0001t0001g0102 a0001c0001t0001g0135 others(14): Show a0001c0001t0001g0027 a0001c0001t0001g0102 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0002g0036 a0001c0001t0002g0163 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0258 a0001c0001t0004g0060 a0002c0002t0001g0141 a0008c0008t0004g0057	19	406	0.0468	-12	c.-11 others(31): Show c.-111-2763_-111-2752delCTTTTTTTTTTT	PNISR	ENSG00000132424.17	transcript	ENST00000369239.10	protein_coding	1/11			chr6	TogoVar
PNISR_chr6_99393050_99430308	99428175	CAATGAAT others(5): Show CAATGAATGAATG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG00673.hp2 others(52): Show HG00544.hp2 HG00609.hp2 HG00673.hp2 HG01069.hp2 HG01074.hp2 HG01433.hp1 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02132.hp1 HG02155.hp1 HG02698.hp1 HG03490.hp2 HG03492.hp1 HG03704.hp2 HG03927.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18949.hp1 NA18955.hp1 NA18957.hp1 NA18964.hp1 NA18970.hp1 NA18971.hp2 NA18974.hp1 NA18980.hp1 NA18986.hp2 NA18988.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19004.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19054.hp1 NA19056.hp2 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19072.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0001 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0013 others(25): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0007g0094 a0001c0001t0011g0097	55	406	0.1355	-12	c.-30 others(23): Show c.-3084_-3073delCATTCATTCATT	PNISR	ENSG00000132424.17	transcript	ENST00000369239.10	protein_coding		2868		chr6	TogoVar
PNKD_chr2_218265519_218351793	218315116	CCTTCCTT others(5): Show CCTTCCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0249 a0001c0001t0005g0249	1	280	0.0036	-12	c.237 others(31): Show c.237-24663_237-24652delCCTTTCTTTCTT	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNKD_chr2_218265519_218351793	218336788	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02723.hp2 HG02886.hp1 others(2): Show HG01257.hp2 HG02723.hp2 HG02886.hp1 HG02976.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0011 a0001c0001t0002g0185 a0001c0001t0002g0225 others(2): Show a0001c0001t0002g0011 a0001c0001t0002g0185 a0001c0001t0002g0225 a0001c0001t0012g0268 a0001c0001t0012g0272	5	280	0.0179	-12	c.237 others(29): Show c.237-2981_237-2970delTTTTTTTTTTTT	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNKP_chr19_49856204_49872576	49865551	ACTTTGGA others(5): Show ACTTTGGAACGGG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03540.hp1 HG02615.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	2	430	0.0047	-12	c.199 others(27): Show c.199-137_199-126delCCCGTTCCAAAG	PNKP	ENSG00000039650.12	transcript	ENST00000322344.8	protein_coding	3/16			chr19	TogoVar
PNLIPRP1_chr10_116585959_116614175	116611464	GAACTTTG others(5): Show GAACTTTGACTAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 NA18939.hp1 NA18942.hp1 others(2): Show HG00423.hp1 NA18939.hp1 NA18942.hp1 NA18951.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0089 a0001c0002t0001g0124 others(1): Show a0001c0002t0001g0027 a0001c0002t0001g0089 a0001c0002t0001g0124 a0001c0002t0001g0128	5	420	0.0119	-12	c.23 others(23): Show c.2349_*2360delAACTTTGACTAC	PNLIPRP1	ENSG00000187021.15	transcript	ENST00000358834.9	protein_coding		2290		chr10	TogoVar
PNLIPRP3_chr10_116422847_116482957	116433114	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	288	0.0035	-12	c.50- others(27): Show c.50-3576_50-3565delAAAAAAAAAAAA	PNLIPRP3	ENSG00000203837.5	transcript	ENST00000369230.4	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PNLIPRP3_chr10_116422847_116482957	116443797	GTGTGCAT others(5): Show GTGTGCATATATA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02027.hp2 NA18906.hp2 others(1): Show HG02004.hp1 HG02027.hp2 NA18906.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0002 a0001c0001t0002 a0003c0004t0002	a0001c0001t0002g0228 a0001c0001t0002g0233 a0003c0004t0002g0250 others(1): Show a0001c0001t0002g0228 a0001c0001t0002g0233 a0003c0004t0002g0250 a0003c0004t0002g0256	4	288	0.0139	-12	c.325 others(27): Show c.325-583_325-572delGTGCATATATAT	PNLIPRP3	ENSG00000203837.5	transcript	ENST00000369230.4	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
PNLIP_chr10_116540931_116572855	116571979	TGGAGTGT others(5): Show TGGAGTGTGCTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	276	0.0036	-12	c.41 others(23): Show c.4182_*4193delGGAGTGTGCTGG	PNLIP	ENSG00000175535.6	transcript	ENST00000369221.2	protein_coding		4125		chr10	TogoVar
PNMA2_chr8_26499701_26518872	26502432	CCTCCCTC others(5): Show CCTCCCTCCCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0039 a0001c0001t0020g0039	1	416	0.0024	-12	c.52 others(23): Show c.5217_*5228delAGAGGGAGGGAG	PNMA2	ENSG00000240694.9	transcript	ENST00000522362.7	protein_coding		2268		chr8	TogoVar
PNMA3_chrX_153051470_153065462	153056881	GGTGGGCG others(5): Show GGTGGGCGTGGAT	G G	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	326	0.0031	-12	c.-10 others(27): Show c.-106-59_-106-48delGATGTGGGCGTG	PNMA3	ENSG00000183837.10	transcript	ENST00000593810.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153070431	TGCCTAGG others(5): Show TGCCTAGGTGGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0019 a0019	a0019c0023 a0019c0023	a0019c0023t0027 a0019c0023t0027	a0019c0023t0027g0014 a0019c0023t0027g0014	1	86	0.0116	-12	c.-23 others(23): Show c.-2303_-2292delGCCTAGGTGGCC	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding		2022		chrX	TogoVar
PNMA8B_chr19_46486191_46500867	46498944	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG01069.hp2 others(89): Show HG00280.hp2 HG00609.hp2 HG01069.hp2 HG01074.hp2 HG01123.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG02004.hp2 HG02015.hp1 HG02055.hp2 HG02132.hp1 HG02135.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02965.hp1 HG02976.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp2 NA18960.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18991.hp2 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19075.hp2 NA19080.hp2 NA19082.hp1 NA19086.hp1 NA19089.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0007 a0011 a0017	a0001c0001 a0001c0006 a0002c0002 others(4): Show a0001c0001 a0001c0006 a0002c0002 a0005c0005 a0007c0009 a0011c0015 a0017c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0006t0012 a0002c0002t0002 a0002c0002t0028 a0005c0005t0006 a0005c0005t0021 a0007c0009t0004 a0011c0015t0002 a0017c0013t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 others(9): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0006t0012g0000 a0002c0002t0002g0000 a0002c0002t0028g0000 a0005c0005t0006g0000 a0005c0005t0021g0000 a0007c0009t0004g0000 a0011c0015t0002g0000 a0017c0013t0002g0000	92	426	0.2160	-12	c.-34 others(23): Show c.-3491_-3480delTTTTTTTTTTTT	PNMA8B	ENSG00000204851.7	transcript	ENST00000599531.2	protein_coding		3078		chr19	TogoVar
PNMA8C_chr19_46419697_46433936	46422279	TTACAGGC others(5): Show TTACAGGCGTGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0000 a0001c0001t0041g0000	1	442	0.0023	-12	c.54 others(23): Show c.5454_*5465delTTCACGCCTGTA	PNMA8C	ENSG00000277531.3	transcript	ENST00000617053.3	protein_coding		2417		chr19	TogoVar

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