Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PLXNA2_chr1_208017242_208249384	208209983	A A	AATTTTTT AATTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp1 NA19030.hp1 others(1): Show HG02258.hp2 HG02486.hp1 NA19030.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0029 a0002c0056 others(1): Show a0001c0001 a0002c0029 a0002c0056 a0002c0064	a0001c0001t0006 a0002c0029t0062 a0002c0056t0002 others(1): Show a0001c0001t0006 a0002c0029t0062 a0002c0056t0002 a0002c0064t0002	a0001c0001t0006g0162 a0002c0029t0062g0069 a0002c0056t0002g0050 others(1): Show a0001c0001t0006g0162 a0002c0029t0062g0069 a0002c0056t0002g0050 a0002c0064t0002g0068	4	60	0.0667	7	c.137 others(24): Show c.1371+296_1371+297insAAAAAAT	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31			chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132196985	A A	ACCATACT ACCATACT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03688.hp2 HG03654.hp1 HG03688.hp2	a0001 a0001	a0001c0014 a0001c0029 a0001c0014 a0001c0029	a0001c0014t0008 a0001c0029t0001 a0001c0014t0008 a0001c0029t0001	a0001c0014t0008g0034 a0001c0029t0001g0016 a0001c0014t0008g0034 a0001c0029t0001g0016	2	86	0.0233	7	c.273 others(26): Show c.2738+1493_2738+1499dupAGTATGG	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	13/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132439494	A A	ATATACAT ATATACAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00544.hp2 others(40): Show HG00099.hp1 HG00099.hp2 HG00544.hp2 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp2 HG01255.hp1 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01934.hp1 HG01943.hp1 HG01993.hp2 HG02080.hp1 HG02165.hp2 HG02257.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02922.hp2 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18952.hp1 NA19043.hp1 NA19043.hp2 NA20300.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0005c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(30): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0016 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0010 a0001c0002t0024 a0001c0003t0002 a0001c0003t0018 a0001c0004t0001 a0001c0005t0008 a0001c0005t0009 a0001c0006t0005 a0001c0007t0004 a0001c0008t0002 a0001c0008t0019 a0001c0009t0001 a0001c0010t0011 a0001c0011t0001 a0001c0013t0001 a0001c0014t0009 a0001c0022t0022 a0001c0023t0002 a0001c0024t0008 a0001c0025t0004 a0001c0028t0005 a0001c0029t0001 a0001c0030t0017 a0001c0031t0002 a0001c0032t0002 a0005c0015t0001	a0001c0001t0001g0019 a0001c0001t0001g0045 a0001c0001t0001g0048 others(40): Show a0001c0001t0001g0019 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0004g0078 a0001c0001t0010g0053 a0001c0001t0016g0047 a0001c0002t0001g0003 a0001c0002t0003g0014 a0001c0002t0004g0006 a0001c0002t0004g0008 a0001c0002t0010g0059 a0001c0002t0024g0060 a0001c0003t0002g0046 a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 a0001c0003t0018g0015 a0001c0004t0001g0041 a0001c0004t0001g0050 a0001c0005t0008g0057 a0001c0005t0008g0063 a0001c0005t0009g0061 a0001c0006t0005g0065 a0001c0007t0004g0029 a0001c0008t0002g0009 a0001c0008t0019g0054 a0001c0009t0001g0010 a0001c0010t0011g0001 a0001c0010t0011g0077 a0001c0011t0001g0051 a0001c0013t0001g0018 a0001c0014t0009g0058 a0001c0022t0022g0081 a0001c0023t0002g0076 a0001c0024t0008g0030 a0001c0025t0004g0043 a0001c0028t0005g0073 a0001c0029t0001g0016 a0001c0030t0017g0056 a0001c0031t0002g0083 a0001c0032t0002g0012 a0005c0015t0001g0084	43	86	0.5000	7	c.137 others(28): Show c.1371+49791_1371+49797dupATGTATA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	3/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132540569	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02723.hp2 HG02965.hp1 others(3): Show HG00621.hp2 HG02723.hp2 HG02965.hp1 HG03486.hp1 HG03654.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0014 a0001c0032 a0001c0039	a0001c0001t0013 a0001c0002t0010 a0001c0006t0003 others(3): Show a0001c0001t0013 a0001c0002t0010 a0001c0006t0003 a0001c0014t0008 a0001c0032t0002 a0001c0039t0007	a0001c0001t0013g0033 a0001c0002t0010g0059 a0001c0006t0003g0035 others(3): Show a0001c0001t0013g0033 a0001c0002t0010g0059 a0001c0006t0003g0035 a0001c0014t0008g0034 a0001c0032t0002g0012 a0001c0039t0007g0079	6	29	0.2069	7	c.-86 others(26): Show c.-86-31797_-86-31791dupAAAAAAA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31			chr7	TogoVar
PLXNB2_chr22_50269979_50312646	50296590	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01884.hp1 HG02647.hp1 others(4): Show HG01361.hp1 HG01884.hp1 HG02647.hp1 HG03486.hp1 NA18522.hp1 NA19043.hp2 NA20129.hp2	a0002 a0004 a0002 a0004	a0002c0007 a0002c0014 a0002c0063 others(1): Show a0002c0007 a0002c0014 a0002c0063 a0004c0008	a0002c0007t0001 a0002c0014t0008 a0002c0063t0002 others(1): Show a0002c0007t0001 a0002c0014t0008 a0002c0063t0002 a0004c0008t0001	a0002c0007t0001g0251 a0002c0007t0001g0252 a0002c0014t0008g0135 others(4): Show a0002c0007t0001g0251 a0002c0007t0001g0252 a0002c0014t0008g0135 a0002c0063t0002g0255 a0004c0008t0001g0250 a0004c0008t0001g0253 a0004c0008t0001g0254	7	195	0.0359	7	c.-73 others(24): Show c.-73-1819_-73-1813dupTTTTTTT	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	1/36			chr22	TogoVar
PLXNC1_chr12_94143577_94312675	94177316	C C	CCAAATTA CCAAATTA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01934.hp1 HG01934.hp2 others(1): Show HG01496.hp1 HG01934.hp1 HG01934.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0032 a0001c0001t0002g0041 a0001c0002t0001g0296 others(1): Show a0001c0001t0002g0032 a0001c0001t0002g0041 a0001c0002t0001g0296 a0001c0002t0002g0295	4	296	0.0135	7	c.120 others(26): Show c.1204-4128_1204-4122dupAAATTAC	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLXNC1_chr12_94143577_94312675	94249939	G G	GGGGGGGT GGGGGGGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp1 HG02922.hp1 others(6): Show HG01243.hp2 HG02258.hp1 HG02922.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0007 others(2): Show a0001c0002 a0001c0004 a0001c0007 a0001c0009 a0002c0021	a0001c0002t0001 a0001c0002t0009 a0001c0004t0001 others(3): Show a0001c0002t0001 a0001c0002t0009 a0001c0004t0001 a0001c0007t0001 a0001c0009t0001 a0002c0021t0002	a0001c0002t0001g0178 a0001c0002t0001g0243 a0001c0002t0009g0233 others(6): Show a0001c0002t0001g0178 a0001c0002t0001g0243 a0001c0002t0009g0233 a0001c0004t0001g0198 a0001c0007t0001g0063 a0001c0009t0001g0053 a0001c0009t0001g0245 a0001c0009t0001g0246 a0002c0021t0002g0015	9	296	0.0304	7	c.277 others(26): Show c.2779-1483_2779-1477dupGGGTGGG	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	14/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLXNC1_chr12_94143577_94312675	94274155	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03139.hp1 HG03195.hp1 others(3): Show HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03540.hp2 NA18906.hp1 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0009 others(2): Show a0001c0002 a0001c0003 a0001c0009 a0001c0037 a0001c0044	a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 others(2): Show a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 a0001c0037t0001 a0001c0044t0001	a0001c0002t0001g0271 a0001c0003t0001g0056 a0001c0009t0001g0053 others(3): Show a0001c0002t0001g0271 a0001c0003t0001g0056 a0001c0009t0001g0053 a0001c0009t0001g0245 a0001c0037t0001g0200 a0001c0044t0001g0171	6	76	0.0789	7	c.359 others(26): Show c.3598-5291_3598-5285dupAAAAAAA	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PMEPA1_chr20_57643396_57715015	57675147	T T	TCACCGCC TCACCGCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00544.hp1 others(93): Show HG00323.hp1 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02080.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18946.hp2 NA18950.hp1 NA18964.hp1 NA18972.hp1 NA18978.hp2 NA18995.hp1 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp2 NA19081.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0036 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0015 a0001c0002t0025 a0001c0002t0053 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0003t0022 a0001c0003t0041 a0001c0003t0044 a0001c0003t0048 a0002c0004t0001 a0002c0004t0008 a0002c0004t0011 a0002c0004t0017 a0002c0004t0018 a0002c0004t0023 a0002c0004t0040 a0002c0004t0050 a0002c0004t0055 a0003c0008t0001	a0001c0001t0001g0072 a0001c0001t0001g0109 a0001c0001t0001g0111 others(89): Show a0001c0001t0001g0072 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0143 a0001c0001t0001g0232 a0001c0001t0001g0262 a0001c0001t0002g0132 a0001c0001t0003g0018 a0001c0001t0003g0097 a0001c0001t0003g0131 a0001c0001t0003g0137 a0001c0001t0003g0193 a0001c0001t0003g0257 a0001c0001t0003g0331 a0001c0001t0005g0074 a0001c0001t0005g0304 a0001c0001t0009g0034 a0001c0001t0009g0146 a0001c0001t0009g0186 a0001c0001t0009g0204 a0001c0001t0013g0022 a0001c0001t0014g0035 a0001c0001t0036g0048 a0001c0002t0001g0141 a0001c0002t0001g0183 a0001c0002t0001g0330 a0001c0002t0002g0075 a0001c0002t0002g0108 a0001c0002t0002g0133 a0001c0002t0007g0033 a0001c0002t0007g0050 a0001c0002t0007g0125 a0001c0002t0007g0138 a0001c0002t0007g0190 a0001c0002t0007g0202 a0001c0002t0007g0208 a0001c0002t0007g0209 a0001c0002t0015g0037 a0001c0002t0015g0203 a0001c0002t0015g0210 a0001c0002t0025g0028 a0001c0002t0025g0189 a0001c0002t0053g0179 a0001c0003t0001g0005 a0001c0003t0001g0017 a0001c0003t0001g0030 a0001c0003t0001g0051 a0001c0003t0001g0053 a0001c0003t0001g0090 a0001c0003t0001g0096 a0001c0003t0001g0110 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0001g0134 a0001c0003t0001g0215 a0001c0003t0001g0225 a0001c0003t0001g0241 a0001c0003t0001g0259 a0001c0003t0001g0260 a0001c0003t0001g0261 a0001c0003t0001g0282 a0001c0003t0001g0283 a0001c0003t0001g0289 a0001c0003t0001g0308 a0001c0003t0003g0163 a0001c0003t0003g0164 a0001c0003t0004g0206 a0001c0003t0006g0038 a0001c0003t0006g0056 a0001c0003t0006g0147 a0001c0003t0006g0149 a0001c0003t0006g0211 a0001c0003t0022g0216 a0001c0003t0041g0224 a0001c0003t0044g0174 a0001c0003t0048g0256 a0002c0004t0001g0207 a0002c0004t0008g0120 a0002c0004t0008g0140 a0002c0004t0008g0329 a0002c0004t0011g0029 a0002c0004t0011g0064 a0002c0004t0011g0201 a0002c0004t0017g0324 a0002c0004t0018g0042 a0002c0004t0018g0158 a0002c0004t0018g0205 a0002c0004t0023g0148 a0002c0004t0040g0039 a0002c0004t0050g0188 a0002c0004t0055g0059 a0003c0008t0001g0252	96	357	0.2689	7	c.110 others(26): Show c.110-15457_110-15451dupGGCGGTG	PMEPA1	ENSG00000124225.16	transcript	ENST00000341744.8	protein_coding	1/3			chr20	TogoVar
PMF1_chr1_156208007_156245042	156211056	T T	TGTGTGTG TGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG02145.hp1 HG00323.hp1 HG00423.hp2 HG02145.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0279 a0001c0001t0001g0314 a0002c0002t0001g0126 a0001c0001t0001g0279 a0001c0001t0001g0314 a0002c0002t0001g0126	3	68	0.0441	7	c.-19 others(18): Show c.-1960_-1959insGTGTGTG	PMF1	ENSG00000160783.19	transcript	ENST00000368277.3	protein_coding		1950		chr1	TogoVar
PMF1_chr1_156208007_156245042	156228256	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02559.hp1 HG03579.hp1 others(4): Show HG02027.hp2 HG02559.hp1 HG03579.hp1 HG03942.hp1 HG04199.hp2 NA19001.hp1 NA19066.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0033 a0002c0002t0001g0058 a0002c0002t0001g0059 others(4): Show a0002c0002t0001g0033 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0330 a0003c0003t0001g0076 a0003c0003t0001g0094	7	117	0.0598	7	c.162 others(24): Show c.162-4038_162-4032dupTTTTTTT	PMF1	ENSG00000160783.19	transcript	ENST00000368277.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
PMFBP1_chr16_72114097_72177155	72140928	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp1 HG01123.hp2 others(6): Show HG00735.hp1 HG01069.hp1 HG01123.hp2 HG01243.hp1 HG01257.hp2 HG02074.hp2 HG02683.hp1 HG03942.hp2 NA19055.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0002 a0004c0004t0005 a0002c0002t0002 a0004c0004t0002 a0004c0004t0005	a0002c0002t0002g0271 a0004c0004t0002g0236 a0004c0004t0002g0237 others(6): Show a0002c0002t0002g0271 a0004c0004t0002g0236 a0004c0004t0002g0237 a0004c0004t0002g0238 a0004c0004t0002g0239 a0004c0004t0002g0246 a0004c0004t0002g0247 a0004c0004t0002g0252 a0004c0004t0005g0250	9	186	0.0484	7	c.637 others(22): Show c.637-353_637-347dupAAAAAAA	PMFBP1	ENSG00000118557.16	transcript	ENST00000237353.15	protein_coding	5/20			chr16	TogoVar
PMM2_chr16_8792839_8854325	8804024	T T	TTTTTTTG TTTTTTTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(132): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01993.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02683.hp1 HG02698.hp2 HG02738.hp1 HG02976.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03491.hp2 HG03654.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18957.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp2 NA19089.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0028 a0001c0001t0031 a0001c0001t0038 a0001c0001t0040 a0001c0005t0001 a0002c0002t0002 a0002c0002t0036	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(122): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0002g0002 a0001c0001t0002g0060 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0149 a0001c0001t0002g0188 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0003g0096 a0001c0001t0003g0146 a0001c0001t0003g0325 a0001c0001t0005g0110 a0001c0001t0028g0126 a0001c0001t0031g0047 a0001c0001t0038g0194 a0001c0001t0040g0073 a0001c0005t0001g0070 a0001c0005t0001g0071 a0002c0002t0002g0193 a0002c0002t0002g0197 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0036g0196	135	405	0.3333	7	c.179 others(22): Show c.179-736_179-730dupGTTTTTT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
PMM2_chr16_8792839_8854325	8804033	T T	TTTTTTTG TTTTTTTG	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18950.hp2 NA18998.hp2 others(3): Show HG02735.hp1 NA18950.hp2 NA18998.hp2 NA19000.hp2 NA19005.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0021 a0003c0004t0003	a0001c0001t0001g0375 a0001c0001t0003g0367 a0001c0001t0003g0368 others(3): Show a0001c0001t0001g0375 a0001c0001t0003g0367 a0001c0001t0003g0368 a0001c0001t0011g0323 a0001c0001t0021g0369 a0003c0004t0003g0370	6	405	0.0148	7	c.179 others(22): Show c.179-728_179-727insGTTTTTT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
PMM2_chr16_8792839_8854325	8851977	C C	CTTTTTTT CTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01081.hp1 HG01517.hp1 others(10): Show HG00597.hp2 HG01081.hp1 HG01517.hp1 HG02257.hp2 HG02602.hp1 NA18962.hp2 NA18973.hp2 NA18978.hp1 NA18983.hp1 NA18984.hp1 NA18999.hp2 NA19089.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0005t0001	a0001c0001t0001g0066 a0001c0001t0001g0077 a0001c0001t0001g0079 others(10): Show a0001c0001t0001g0066 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0002g0237 a0001c0001t0014g0042 a0001c0005t0001g0070	13	75	0.1733	7	c.41 others(18): Show c.4152_*4153insTTTTTTT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding		2653		chr16	TogoVar
PMP22_chr17_15224779_15270326	15238659	C C	CAAGATGT CAAGATGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01433.hp1 HG02257.hp1 others(11): Show HG00741.hp1 HG01433.hp1 HG02257.hp1 HG02572.hp1 HG02717.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03041.hp2 HG03225.hp2 HG03486.hp2 HG06807.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0018 a0001c0001t0006 a0001c0001t0007 a0001c0001t0018	a0001c0001t0006g0143 a0001c0001t0006g0144 a0001c0001t0006g0185 others(9): Show a0001c0001t0006g0143 a0001c0001t0006g0144 a0001c0001t0006g0185 a0001c0001t0007g0021 a0001c0001t0007g0142 a0001c0001t0007g0145 a0001c0001t0007g0146 a0001c0001t0007g0147 a0001c0001t0007g0149 a0001c0001t0007g0157 a0001c0001t0007g0244 a0001c0001t0018g0284	14	421	0.0333	7	c.319 others(22): Show c.319+805_319+811dupACATCTT	PMP22	ENSG00000109099.16	transcript	ENST00000312280.9	protein_coding	4/4			chr17	TogoVar
PMS1_chr2_189779450_189882629	189875955	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02630.hp2 others(2): Show HG01891.hp2 HG02145.hp1 HG02630.hp2 HG02922.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0040 a0001c0001t0003g0208 a0001c0001t0003g0215 others(2): Show a0001c0001t0002g0040 a0001c0001t0003g0208 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0219	5	92	0.0543	7	c.263 others(26): Show c.2635-1298_2635-1292dupAAAAAAA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS2_chr7_5965925_6014049	5969147	C C	CTTTTTTT CTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02074.hp2 HG02735.hp2 others(13): Show HG00438.hp2 HG02074.hp2 HG02735.hp2 HG03492.hp1 HG03669.hp2 HG03688.hp1 NA18948.hp1 NA18953.hp2 NA18973.hp2 NA18980.hp1 NA18985.hp1 NA18993.hp1 NA19000.hp1 NA19012.hp2 NA19065.hp1 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0018 a0002c0004t0001 a0001c0001t0001 a0001c0001t0018 a0002c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0099 a0001c0001t0001g0136 others(13): Show a0001c0001t0001g0003 a0001c0001t0001g0099 a0001c0001t0001g0136 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0325 a0001c0001t0018g0128 a0001c0001t0018g0150 a0002c0004t0001g0264	16	87	0.1839	7	c.42 others(18): Show c.4245_*4251dupAAAAAAA	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		1777		chr7	TogoVar
PNISR_chr6_99393050_99430308	99419152	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02080.hp1 HG02132.hp2 others(5): Show HG01261.hp1 HG02080.hp1 HG02132.hp2 HG02559.hp1 HG02630.hp1 NA18943.hp2 NA18945.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0038 a0001c0001t0002g0139 a0001c0001t0002g0199 others(4): Show a0001c0001t0002g0038 a0001c0001t0002g0139 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0003g0053	8	322	0.0248	7	c.-11 others(26): Show c.-111-2731_-111-2725dupTTTTTTT	PNISR	ENSG00000132424.17	transcript	ENST00000369239.10	protein_coding	1/11			chr6	TogoVar
PNKD_chr2_218265519_218351793	218314222	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp1 HG02896.hp2 others(5): Show HG02451.hp2 HG02615.hp1 HG02896.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 others(3): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0018 a0001c0002t0002	a0001c0001t0003g0023 a0001c0001t0003g0053 a0001c0001t0008g0026 others(5): Show a0001c0001t0003g0023 a0001c0001t0003g0053 a0001c0001t0008g0026 a0001c0001t0008g0051 a0001c0001t0009g0050 a0001c0001t0010g0030 a0001c0001t0018g0277 a0001c0002t0002g0033	8	31	0.2581	7	c.237 others(26): Show c.237-25546_237-25540dupTTTTTTT	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNKD_chr2_218265519_218351793	218336213	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG00621.hp2 others(38): Show HG00099.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG01169.hp2 HG01361.hp2 HG01433.hp1 HG01891.hp2 HG02027.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02738.hp1 HG03831.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp2 NA18943.hp1 NA18951.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18978.hp1 NA19002.hp2 NA19011.hp1 NA19043.hp1 NA19054.hp2 NA19070.hp2 NA19074.hp2 NA19084.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0002t0002 a0001c0002t0016 a0001c0002t0017 a0001c0004t0004 a0002c0003t0011	a0001c0001t0001g0087 a0001c0001t0002g0179 a0001c0001t0002g0219 others(38): Show a0001c0001t0001g0087 a0001c0001t0002g0179 a0001c0001t0002g0219 a0001c0001t0003g0082 a0001c0001t0003g0085 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0112 a0001c0001t0003g0122 a0001c0001t0003g0125 a0001c0001t0003g0142 a0001c0001t0003g0265 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0004g0022 a0001c0001t0004g0120 a0001c0001t0004g0187 a0001c0001t0004g0193 a0001c0001t0004g0197 a0001c0001t0004g0199 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0211 a0001c0001t0004g0229 a0001c0001t0004g0234 a0001c0001t0004g0239 a0001c0001t0004g0242 a0001c0001t0005g0249 a0001c0001t0005g0258 a0001c0001t0008g0026 a0001c0001t0008g0051 a0001c0001t0008g0132 a0001c0001t0008g0166 a0001c0002t0002g0134 a0001c0002t0016g0031 a0001c0002t0017g0067 a0001c0004t0004g0002 a0001c0004t0004g0137 a0002c0003t0011g0147 a0002c0003t0011g0154 a0002c0003t0011g0236	41	48	0.8542	7	c.237 others(24): Show c.237-3561_237-3555dupAAAAAAA	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNMA5_chrX_152983824_152999116	152998397	T T	TATATATA TATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG03486.hp2 HG01884.hp2 HG02451.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	3	284	0.0106	7	c.-46 others(18): Show c.-4695_-4694insTATATAT	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4282		chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153072705	C C	CGGTCCGG CGGTCCGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02486.hp1 HG02559.hp2 others(1): Show HG00735.hp2 HG02486.hp1 HG02559.hp2 HG03098.hp1	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0007 a0005c0012 a0006c0011 a0002c0007 a0005c0012 a0006c0011	a0002c0007t0005 a0005c0012t0005 a0006c0011t0011 a0002c0007t0005 a0005c0012t0005 a0006c0011t0011	a0002c0007t0005g0002 a0005c0012t0005g0002 a0006c0011t0011g0002 a0002c0007t0005g0002 a0005c0012t0005g0002 a0006c0011t0011g0002	4	82	0.0488	7	c.-12 others(24): Show c.-129+130_-129+136dupTCCGGGG	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153077288	C C	CCCCCGGA CCCCCGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02486.hp1 HG02559.hp2 others(1): Show HG00735.hp2 HG02486.hp1 HG02559.hp2 HG03098.hp1	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0007 a0005c0012 a0006c0011 a0002c0007 a0005c0012 a0006c0011	a0002c0007t0005 a0005c0012t0005 a0006c0011t0011 a0002c0007t0005 a0005c0012t0005 a0006c0011t0011	a0002c0007t0005g0002 a0005c0012t0005g0002 a0006c0011t0011g0002 a0002c0007t0005g0002 a0005c0012t0005g0002 a0006c0011t0011g0002	4	82	0.0488	7	c.30 others(18): Show c.3026_*3027insCCCCGGA	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding		2270		chrX	TogoVar
PNMA8C_chr19_46419697_46433936	46423751	A A	ATTTTTTT ATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(125): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01099.hp1 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01346.hp2 HG01361.hp1 HG01516.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18906.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18960.hp1 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18969.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18976.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp2 NA18986.hp2 NA18991.hp2 NA18992.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp2 NA19076.hp1 NA19077.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0049 a0001c0001t0055	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0008g0000 others(18): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0008g0000 a0001c0001t0010g0000 a0001c0001t0013g0000 a0001c0001t0015g0000 a0001c0001t0020g0000 a0001c0001t0021g0000 a0001c0001t0030g0000 a0001c0001t0032g0000 a0001c0001t0033g0000 a0001c0001t0035g0000 a0001c0001t0038g0000 a0001c0001t0039g0000 a0001c0001t0040g0000 a0001c0001t0041g0000 a0001c0001t0043g0000 a0001c0001t0044g0000 a0001c0001t0046g0000 a0001c0001t0049g0000 a0001c0001t0055g0000	128	258	0.4961	7	c.39 others(18): Show c.3993_*3994insAAAAAAA	PNMA8C	ENSG00000277531.3	transcript	ENST00000617053.3	protein_coding		945		chr19	TogoVar
PNN_chr14_39170254_39188220	39187618	C C	CAAAAAAA CAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01884.hp2 HG02630.hp1 others(8): Show HG01433.hp1 HG01884.hp2 HG02630.hp1 HG02976.hp2 HG03041.hp1 HG03225.hp1 NA18969.hp1 NA19005.hp2 NA19012.hp2 NA19058.hp2 NA19072.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0003 a0002c0006 others(1): Show a0001c0007 a0002c0003 a0002c0006 a0002c0009	a0001c0007t0001 a0002c0003t0001 a0002c0006t0001 others(1): Show a0001c0007t0001 a0002c0003t0001 a0002c0006t0001 a0002c0009t0012	a0001c0007t0001g0028 a0001c0007t0001g0052 a0001c0007t0001g0056 others(5): Show a0001c0007t0001g0028 a0001c0007t0001g0052 a0001c0007t0001g0056 a0002c0003t0001g0003 a0002c0003t0001g0010 a0002c0003t0001g0082 a0002c0006t0001g0003 a0002c0009t0012g0040	11	109	0.1009	7	c.57 others(18): Show c.5755_*5756insAAAAAAA	PNN	ENSG00000100941.9	transcript	ENST00000216832.9	protein_coding		4399		chr14	TogoVar
PNO1_chr2_68152888_68181238	68172278	A A	AAGGCAAG AAGGCAAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02922.hp2 HG03579.hp2 others(3): Show HG02647.hp1 HG02922.hp2 HG03579.hp2 NA18522.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0006 a0001c0005t0001 a0001c0005t0006	a0001c0005t0001g0029 a0001c0005t0001g0061 a0001c0005t0001g0063 others(3): Show a0001c0005t0001g0029 a0001c0005t0001g0061 a0001c0005t0001g0063 a0001c0005t0001g0064 a0001c0005t0006g0029 a0001c0005t0006g0062	6	442	0.0136	7	c.621 others(24): Show c.621-1066_621-1065insCAAGAGG	PNO1	ENSG00000115946.8	transcript	ENST00000263657.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNO1_chr2_68152888_68181238	68179009	A A	AAAAAAAG AAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02129.hp2 HG02523.hp2 others(5): Show HG01346.hp2 HG02129.hp2 HG02523.hp2 HG02735.hp2 NA18973.hp2 NA18993.hp1 NA19001.hp1 NA19078.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0022 a0001c0003t0001g0048 a0001c0003t0001g0190 others(4): Show a0001c0003t0001g0022 a0001c0003t0001g0048 a0001c0003t0001g0190 a0001c0003t0001g0213 a0001c0003t0001g0215 a0001c0003t0001g0227 a0001c0003t0001g0229	8	167	0.0479	7	c.42 others(18): Show c.4207_*4208insAAAAAAG	PNO1	ENSG00000115946.8	transcript	ENST00000263657.7	protein_coding		2772		chr2	TogoVar
PNPLA1_chr6_36265060_36318955	36299333	C C	CTTTTTGT CTTTTTGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG02145.hp2 others(2): Show HG00438.hp2 HG00673.hp1 HG02145.hp2 HG03710.hp2 NA19065.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0003c0007 others(1): Show a0001c0001 a0001c0003 a0003c0007 a0004c0006	a0001c0001t0001 a0001c0003t0005 a0003c0007t0001 others(2): Show a0001c0001t0001 a0001c0003t0005 a0003c0007t0001 a0003c0007t0021 a0004c0006t0001	a0001c0001t0001g0372 a0001c0003t0005g0240 a0003c0007t0001g0363 others(2): Show a0001c0001t0001g0372 a0001c0003t0005g0240 a0003c0007t0001g0363 a0003c0007t0021g0362 a0004c0006t0001g0318	5	181	0.0276	7	c.776 others(24): Show c.776-2527_776-2526insTTTTGTT	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA6_chr19_7530717_7566764	7549494	C C	CTTCTTCT CTTCTTCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00733.hp1 HG02559.hp2 others(12): Show HG00544.hp2 HG00733.hp1 HG02559.hp2 NA18522.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18966.hp2 NA18998.hp2 NA19003.hp1 NA19007.hp1 NA19030.hp2 NA19043.hp1 NA19070.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0048 a0001c0001t0001g0115 a0001c0001t0001g0122 others(12): Show a0001c0001t0001g0048 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0230 a0001c0001t0001g0249 a0001c0001t0001g0322 a0001c0001t0002g0280 a0001c0001t0003g0083	15	162	0.0926	7	c.160 others(24): Show c.1609-411_1609-410insCTTCTTT	PNPLA6	ENSG00000032444.17	transcript	ENST00000600737.6	protein_coding	13/31		INFO_REALIGN_3_PRIME	chr19	TogoVar
PNPLA7_chr9_137454952_137555402	137473798	T T	TACCGACC TACCGACC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03704.hp1 HG01109.hp1 HG03704.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0014 a0003c0008t0001g0159 a0003c0008t0001g0014 a0003c0008t0001g0159	2	178	0.0112	7	c.288 others(26): Show c.2882+4235_2882+4236insGGTCGGT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	25/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137504086	G G	GAAGAAGA GAAGAAGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp1 HG03130.hp1 others(2): Show HG01891.hp1 HG02559.hp1 HG03130.hp1 HG03471.hp2 HG03579.hp2	a0003 a0011 a0029 a0003 a0011 a0029	a0003c0057 a0011c0012 a0029c0056 a0003c0057 a0011c0012 a0029c0056	a0003c0057t0001 a0011c0012t0001 a0029c0056t0001 a0003c0057t0001 a0011c0012t0001 a0029c0056t0001	a0003c0057t0001g0176 a0011c0012t0001g0164 a0011c0012t0001g0165 others(2): Show a0003c0057t0001g0176 a0011c0012t0001g0164 a0011c0012t0001g0165 a0011c0012t0001g0166 a0029c0056t0001g0167	5	186	0.0269	7	c.147 others(26): Show c.1473+1521_1473+1527dupTCTTCTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPT1_chr2_55629061_55698844	55635669	T T	TTTGGTAA TTTGGTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00423.hp2 others(135): Show HG00099.hp2 HG00140.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01074.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02965.hp2 HG03098.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19006.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19080.hp1 NA19081.hp1 NA19084.hp2 NA19088.hp1 NA19090.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0009 a0001c0017 others(5): Show a0001c0001 a0001c0009 a0001c0017 a0002c0002 a0002c0005 a0002c0011 a0004c0016 a0007c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(19): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0036 a0001c0009t0029 a0001c0017t0001 a0002c0002t0001 a0002c0005t0001 a0002c0011t0001 a0004c0016t0001 a0007c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0030 others(133): Show a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0281 a0001c0001t0001g0312 a0001c0001t0001g0358 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0006g0136 a0001c0001t0006g0198 a0001c0001t0006g0200 a0001c0001t0006g0201 a0001c0001t0006g0202 a0001c0001t0006g0203 a0001c0001t0006g0204 a0001c0001t0006g0205 a0001c0001t0006g0206 a0001c0001t0006g0207 a0001c0001t0008g0132 a0001c0001t0008g0137 a0001c0001t0008g0147 a0001c0001t0008g0148 a0001c0001t0008g0159 a0001c0001t0008g0160 a0001c0001t0008g0161 a0001c0001t0011g0144 a0001c0001t0011g0179 a0001c0001t0011g0194 a0001c0001t0012g0171 a0001c0001t0012g0177 a0001c0001t0012g0184 a0001c0001t0013g0117 a0001c0001t0013g0168 a0001c0001t0014g0154 a0001c0001t0014g0167 a0001c0001t0015g0033 a0001c0001t0015g0041 a0001c0001t0024g0152 a0001c0001t0025g0190 a0001c0001t0026g0174 a0001c0001t0027g0155 a0001c0001t0028g0114 a0001c0001t0030g0040 a0001c0001t0036g0185 a0001c0009t0029g0199 a0001c0017t0001g0371 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0057 a0002c0002t0001g0362 a0002c0005t0001g0151 a0002c0011t0001g0044 a0004c0016t0001g0053 a0007c0008t0001g0055	138	388	0.3557	7	c.56 others(16): Show c.561_*567dupTTACCAA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	28/28	567		chr2	TogoVar
PNPT1_chr2_55629061_55698844	55694980	C C	CAAAAAAA CAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01081.hp2 HG01928.hp1 others(3): Show HG00639.hp1 HG01081.hp2 HG01928.hp1 HG02055.hp2 HG02723.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0215 others(3): Show a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0215 a0002c0002t0002g0223 a0002c0002t0002g0244 a0002c0002t0002g0247	6	53	0.1132	7	c.-11 others(18): Show c.-1158_-1157insTTTTTTT	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding		1137		chr2	TogoVar
PNP_chr14_20464406_20482089	20471197	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02922.hp2 NA18939.hp1 others(4): Show HG02257.hp1 HG02922.hp2 NA18939.hp1 NA18951.hp1 NA18981.hp2 NA19000.hp1 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0026 a0002c0003t0001g0010 a0001c0001t0001g0026 a0002c0003t0001g0010	7	232	0.0302	7	c.12- others(22): Show c.12-1092_12-1086dupTTTTTTT	PNP	ENSG00000198805.13	transcript	ENST00000361505.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
POC1B_chr12_89414718_89531047	89510763	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00597.hp2 others(121): Show HG00099.hp1 HG00099.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01891.hp1 HG01943.hp1 HG01978.hp2 HG02004.hp1 HG02027.hp1 HG02055.hp2 HG02071.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG04199.hp1 HG04228.hp2 NA18906.hp2 NA18944.hp2 NA18947.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18960.hp1 NA18964.hp2 NA18965.hp2 NA18979.hp2 NA18982.hp1 NA18985.hp1 NA18992.hp2 NA18999.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19076.hp2 NA19080.hp2 NA19083.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0006 a0001c0001 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0002c0003t0001 a0003c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(118): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0348 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0002g0051 a0001c0001t0002g0164 a0001c0001t0002g0171 a0001c0001t0002g0208 a0001c0001t0003g0042 a0001c0001t0003g0205 a0001c0001t0003g0350 a0001c0001t0003g0351 a0001c0001t0004g0284 a0001c0001t0004g0287 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0011g0362 a0001c0001t0011g0363 a0001c0001t0012g0106 a0001c0001t0013g0319 a0002c0003t0001g0288 a0003c0006t0001g0322	124	209	0.5933	7	c.101 others(26): Show c.101-13428_101-13422dupAAAAAAA	POC1B	ENSG00000139323.14	transcript	ENST00000313546.8	protein_coding	2/11			chr12	TogoVar
POC1B_chr12_89414718_89531047	89514402	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01169.hp1 others(27): Show HG00735.hp1 HG00741.hp2 HG01169.hp1 HG01243.hp2 HG01258.hp1 HG01361.hp2 HG02027.hp1 HG02257.hp1 HG02280.hp2 HG02300.hp2 HG02572.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18952.hp2 NA18962.hp2 NA18973.hp2 NA18979.hp2 NA18982.hp1 NA18991.hp2 NA18998.hp1 NA19010.hp2 NA19057.hp1 NA19065.hp1 NA19240.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0053 others(27): Show a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0101 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0297 a0001c0001t0003g0205 a0001c0001t0005g0043	30	102	0.2941	7	c.100 others(26): Show c.100+10711_100+10717dupAAAAAAA	POC1B	ENSG00000139323.14	transcript	ENST00000313546.8	protein_coding	2/11			chr12	TogoVar
PODXL_chr7_131495271_131561628	131526739	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(110): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01175.hp1 HG01255.hp2 HG01928.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02559.hp1 HG02602.hp2 HG02723.hp2 HG02735.hp2 HG03139.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp2 NA19062.hp2 NA19064.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011	a0001c0003 a0001c0008 a0001c0012 others(22): Show a0001c0003 a0001c0008 a0001c0012 a0001c0016 a0001c0038 a0001c0049 a0001c0053 a0002c0001 a0003c0005 a0003c0006 a0003c0013 a0003c0044 a0003c0057 a0004c0002 a0004c0021 a0005c0004 a0005c0022 a0005c0033 a0006c0007 a0006c0010 a0006c0011 a0007c0009 a0007c0017 a0008c0014 a0011c0030	a0001c0003t0002 a0001c0008t0004 a0001c0008t0036 others(31): Show a0001c0003t0002 a0001c0008t0004 a0001c0008t0036 a0001c0012t0027 a0001c0016t0001 a0001c0038t0016 a0001c0049t0043 a0001c0053t0003 a0002c0001t0001 a0002c0001t0003 a0003c0005t0003 a0003c0006t0002 a0003c0013t0004 a0003c0044t0004 a0003c0057t0001 a0004c0002t0001 a0004c0002t0003 a0004c0002t0017 a0004c0021t0003 a0005c0004t0001 a0005c0004t0003 a0005c0022t0003 a0005c0033t0020 a0006c0007t0002 a0006c0007t0005 a0006c0010t0002 a0006c0011t0001 a0007c0009t0002 a0007c0009t0004 a0007c0009t0018 a0007c0009t0033 a0007c0017t0001 a0008c0014t0003 a0011c0030t0004	a0001c0003t0002g0189 a0001c0003t0002g0232 a0001c0003t0002g0272 others(108): Show a0001c0003t0002g0189 a0001c0003t0002g0232 a0001c0003t0002g0272 a0001c0003t0002g0277 a0001c0008t0004g0195 a0001c0008t0004g0217 a0001c0008t0004g0260 a0001c0008t0004g0264 a0001c0008t0004g0266 a0001c0008t0004g0270 a0001c0008t0004g0273 a0001c0008t0004g0274 a0001c0008t0004g0283 a0001c0008t0004g0315 a0001c0008t0004g0316 a0001c0008t0036g0238 a0001c0012t0027g0025 a0001c0016t0001g0250 a0001c0016t0001g0265 a0001c0016t0001g0276 a0001c0016t0001g0298 a0001c0016t0001g0299 a0001c0038t0016g0012 a0001c0049t0043g0430 a0001c0053t0003g0205 a0002c0001t0001g0060 a0002c0001t0001g0061 a0002c0001t0001g0085 a0002c0001t0001g0091 a0002c0001t0001g0120 a0002c0001t0001g0121 a0002c0001t0001g0143 a0002c0001t0001g0150 a0002c0001t0001g0158 a0002c0001t0001g0159 a0002c0001t0001g0160 a0002c0001t0003g0135 a0002c0001t0003g0136 a0002c0001t0003g0140 a0002c0001t0003g0147 a0002c0001t0003g0157 a0002c0001t0003g0161 a0002c0001t0003g0180 a0003c0005t0003g0383 a0003c0006t0002g0343 a0003c0006t0002g0350 a0003c0006t0002g0416 a0003c0013t0004g0329 a0003c0013t0004g0333 a0003c0013t0004g0335 a0003c0013t0004g0347 a0003c0013t0004g0358 a0003c0013t0004g0367 a0003c0013t0004g0374 a0003c0013t0004g0375 a0003c0013t0004g0377 a0003c0013t0004g0413 a0003c0044t0004g0043 a0003c0057t0001g0357 a0004c0002t0001g0186 a0004c0002t0001g0200 a0004c0002t0001g0225 a0004c0002t0001g0248 a0004c0002t0001g0278 a0004c0002t0001g0280 a0004c0002t0003g0227 a0004c0002t0003g0233 a0004c0002t0003g0247 a0004c0002t0003g0296 a0004c0002t0003g0301 a0004c0002t0017g0271 a0004c0021t0003g0009 a0004c0021t0003g0279 a0005c0004t0001g0355 a0005c0004t0001g0366 a0005c0004t0001g0390 a0005c0004t0001g0399 a0005c0004t0001g0412 a0005c0004t0003g0336 a0005c0004t0003g0338 a0005c0004t0003g0356 a0005c0004t0003g0371 a0005c0004t0003g0423 a0005c0004t0003g0425 a0005c0004t0003g0428 a0005c0022t0003g0339 a0005c0022t0003g0342 a0005c0022t0003g0381 a0005c0022t0003g0407 a0005c0033t0020g0376 a0006c0007t0002g0092 a0006c0007t0002g0171 a0006c0007t0005g0104 a0006c0007t0005g0105 a0006c0010t0002g0080 a0006c0011t0001g0148 a0007c0009t0002g0146 a0007c0009t0004g0004 a0007c0009t0004g0059 a0007c0009t0004g0093 a0007c0009t0004g0110 a0007c0009t0004g0179 a0007c0009t0018g0064 a0007c0009t0033g0063 a0007c0017t0001g0070 a0007c0017t0001g0071 a0007c0017t0001g0072 a0007c0017t0001g0073 a0008c0014t0003g0039 a0011c0030t0004g0118 a0011c0030t0004g0137	113	114	0.9912	7	c.101 others(26): Show c.101-15313_101-15307dupAAAAAAA	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
PODXL_chr7_131495271_131561628	131547374	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02148.hp1 HG02148.hp2 others(6): Show HG02071.hp2 HG02148.hp1 HG02148.hp2 HG02895.hp1 HG02897.hp1 HG03579.hp1 NA18957.hp1 NA18991.hp2 NA19004.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0001c0012 a0001c0052 others(3): Show a0001c0003 a0001c0012 a0001c0052 a0003c0034 a0004c0002 a0004c0031	a0001c0003t0002 a0001c0012t0014 a0001c0052t0002 others(3): Show a0001c0003t0002 a0001c0012t0014 a0001c0052t0002 a0003c0034t0007 a0004c0002t0001 a0004c0031t0001	a0001c0003t0002g0197 a0001c0003t0002g0228 a0001c0012t0014g0313 others(6): Show a0001c0003t0002g0197 a0001c0003t0002g0228 a0001c0012t0014g0313 a0001c0052t0002g0198 a0003c0034t0007g0321 a0003c0034t0007g0322 a0004c0002t0001g0199 a0004c0002t0001g0230 a0004c0031t0001g0229	9	28	0.3214	7	c.100 others(24): Show c.100+8879_100+8885dupTTTTTTT	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
POGLUT1_chr3_119463963_119499708	119499696	C C	CTGAGGGG CTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02895.hp2 NA19240.hp2 HG01884.hp2 HG02895.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0027 a0001c0001t0016g0066 a0001c0001t0016g0027 a0001c0001t0016g0066	3	420	0.0071	7	c.72 others(18): Show c.7258_*7259insTGAGGGG	POGLUT1	ENSG00000163389.12	transcript	ENST00000295588.9	protein_coding		4989		chr3	TogoVar
POGZ_chr1_151397724_151464494	151398423	C C	CTTTTTTT CTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(21): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00735.hp2 HG00741.hp2 HG01261.hp1 HG02055.hp2 HG02257.hp1 HG02293.hp1 HG02615.hp2 HG02896.hp2 HG02976.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG06807.hp2 NA18963.hp1 NA18963.hp2 NA18992.hp1 NA19030.hp2 NA19043.hp2 NA19066.hp2 NA19091.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0005 a0001c0012 others(3): Show a0001c0001 a0001c0005 a0001c0012 a0001c0015 a0007c0011 a0008c0017	a0001c0001t0001 a0001c0001t0020 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0001t0020 a0001c0005t0001 a0001c0012t0001 a0001c0015t0001 a0007c0011t0001 a0008c0017t0001	a0001c0001t0001g0004 a0001c0001t0001g0202 a0001c0001t0001g0219 others(21): Show a0001c0001t0001g0004 a0001c0001t0001g0202 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0257 a0001c0001t0001g0275 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0020g0311 a0001c0005t0001g0292 a0001c0005t0001g0293 a0001c0012t0001g0268 a0001c0015t0001g0289 a0007c0011t0001g0227 a0008c0017t0001g0270	24	33	0.7273	7	c.63 others(18): Show c.6378_*6379insAAAAAAA	POGZ	ENSG00000143442.24	transcript	ENST00000271715.7	protein_coding		4300		chr1	TogoVar
POLA1_chrX_24688918_25001986	24916287	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02451.hp1 others(11): Show HG02055.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03195.hp2 HG03540.hp1 NA18906.hp2 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020	14	184	0.0761	7	c.416 others(28): Show c.4165-14158_4165-14152dupTTTTTTT	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	35/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLD1_chr19_50379347_50423014	50400211	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02572.hp1 HG02615.hp2 others(4): Show HG01109.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG03209.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0039 a0003c0006t0001g0040 a0003c0006t0001g0041 others(4): Show a0003c0006t0001g0039 a0003c0006t0001g0040 a0003c0006t0001g0041 a0003c0006t0001g0042 a0003c0006t0001g0043 a0003c0006t0001g0045 a0003c0006t0001g0046	7	215	0.0326	7	c.316 others(22): Show c.316+747_316+753dupTTTTTTT	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
POLD1_chr19_50379347_50423014	50401392	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp2 HG03579.hp1 HG01884.hp2 HG02922.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033	3	284	0.0106	7	c.317 others(22): Show c.317-386_317-385insATATATA	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	3/26			chr19	TogoVar
POLE2_chr14_49638555_49693214	49670317	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp2 HG03195.hp2 others(2): Show HG02486.hp1 HG02647.hp2 HG03195.hp2 HG03209.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0039 others(2): Show a0001c0001t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0043	5	77	0.0649	7	c.418 others(22): Show c.418-726_418-720dupTTTTTTT	POLE2	ENSG00000100479.14	transcript	ENST00000216367.10	protein_coding	5/18			chr14	TogoVar
POLG2_chr17_64472785_64502054	64495177	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp1 HG01071.hp2 others(29): Show HG00639.hp1 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp1 HG01243.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02145.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG03139.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03688.hp2 HG04184.hp2 HG06807.hp1 NA18956.hp1 NA19043.hp2 NA21309.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0002c0003 a0006c0007 a0002c0002 a0002c0003 a0006c0007	a0002c0002t0002 a0002c0003t0002 a0006c0007t0002 a0002c0002t0002 a0002c0003t0002 a0006c0007t0002	a0002c0002t0002g0008 a0002c0002t0002g0013 a0002c0002t0002g0014 others(19): Show a0002c0002t0002g0008 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0025 a0002c0002t0002g0048 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0003t0002g0053 a0006c0007t0002g0042	32	33	0.9697	7	c.562 others(24): Show c.562+1223_562+1229dupTTTTTTT	POLG2	ENSG00000256525.8	transcript	ENST00000539111.7	protein_coding	1/7			chr17	TogoVar
POLK_chr5_75506891_75614991	75549075	G G	GTTAAATC GTTAAATC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03927.hp1 NA18747.hp2 others(15): Show HG03704.hp1 HG03927.hp1 NA18747.hp2 NA18942.hp2 NA18948.hp1 NA18962.hp2 NA18968.hp2 NA18971.hp1 NA18975.hp2 NA18985.hp1 NA18991.hp1 NA19002.hp1 NA19009.hp1 NA19058.hp1 NA19060.hp1 NA19070.hp1 NA19074.hp1 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0120 a0001c0002t0121 a0001c0002t0004 a0001c0002t0120 a0001c0002t0121	a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0314 others(13): Show a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0314 a0001c0002t0004g0315 a0001c0002t0004g0316 a0001c0002t0004g0317 a0001c0002t0004g0318 a0001c0002t0004g0319 a0001c0002t0004g0320 a0001c0002t0004g0321 a0001c0002t0004g0327 a0001c0002t0004g0328 a0001c0002t0004g0331 a0001c0002t0004g0333 a0001c0002t0120g0329 a0001c0002t0121g0335	18	354	0.0508	7	c.135 others(24): Show c.135+1920_135+1926dupTAAATCT	POLK	ENSG00000122008.16	transcript	ENST00000241436.9	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
POLN_chr4_2066918_2247121	2201277	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01978.hp2 HG01993.hp2 others(18): Show HG01081.hp2 HG01978.hp2 HG01993.hp2 HG02055.hp1 HG02074.hp1 HG02145.hp1 HG02257.hp1 HG02523.hp2 HG02647.hp1 HG02738.hp2 HG02970.hp1 HG03471.hp1 HG03579.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA19001.hp2 NA19005.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0013 a0001c0002 a0001c0003 a0001c0013	a0001c0002t0001 a0001c0003t0001 a0001c0013t0001 a0001c0002t0001 a0001c0003t0001 a0001c0013t0001	a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0030 others(18): Show a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0047 a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0003t0001g0065 a0001c0003t0001g0076 a0001c0003t0001g0081 a0001c0003t0001g0083 a0001c0013t0001g0027	21	24	0.8750	7	c.715 others(24): Show c.715-2567_715-2561dupTTTTTTT	POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	5/25			chr4	TogoVar
POLQ_chr3_121426431_121550988	121479362	A A	AATGTGTG AATGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG03041.hp1 others(3): Show HG01891.hp2 HG02258.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03516.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0003 a0008c0009t0001 a0008c0009t0003	a0008c0009t0001g0009 a0008c0009t0001g0010 a0008c0009t0003g0023 others(3): Show a0008c0009t0001g0009 a0008c0009t0001g0010 a0008c0009t0003g0023 a0008c0009t0003g0024 a0008c0009t0003g0025 a0008c0009t0003g0026	6	105	0.0571	7	c.621 others(26): Show c.6211+2209_6211+2210insCACACAT	POLQ	ENSG00000051341.15	transcript	ENST00000264233.6	protein_coding	19/29			chr3	TogoVar
POLR1A_chr2_86015216_86110886	86068386	C C	CGGGGGGG CGGGGGGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp2 HG01071.hp2 others(32): Show HG00735.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01258.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02132.hp1 HG02523.hp2 HG02615.hp2 HG02965.hp1 HG03017.hp1 HG03209.hp1 HG03453.hp2 HG03491.hp1 HG03516.hp1 NA18906.hp2 NA18946.hp1 NA18948.hp1 NA18954.hp1 NA18967.hp1 NA18977.hp1 NA18979.hp2 NA18988.hp2 NA18998.hp2 NA19009.hp1 NA19011.hp2 NA19074.hp1 NA19085.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2	a0001 a0005 a0006 others(3): Show a0001 a0005 a0006 a0009 a0014 a0018	a0001c0001 a0001c0012 a0005c0006 others(5): Show a0001c0001 a0001c0012 a0005c0006 a0005c0017 a0006c0007 a0009c0011 a0014c0022 a0018c0034	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0001t0019 a0001c0001t0032 a0001c0001t0035 a0001c0001t0038 a0001c0012t0002 a0005c0006t0011 a0005c0017t0005 a0006c0007t0005 a0009c0011t0011 a0014c0022t0005 a0018c0034t0018	a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0193 others(30): Show a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0248 a0001c0001t0004g0239 a0001c0001t0010g0004 a0001c0001t0012g0174 a0001c0001t0019g0177 a0001c0001t0019g0316 a0001c0001t0032g0315 a0001c0001t0035g0317 a0001c0001t0038g0323 a0001c0012t0002g0151 a0005c0006t0011g0157 a0005c0017t0005g0173 a0006c0007t0005g0061 a0006c0007t0005g0066 a0006c0007t0005g0067 a0009c0011t0011g0163 a0009c0011t0011g0166 a0009c0011t0011g0171 a0014c0022t0005g0058 a0018c0034t0018g0156	35	96	0.3646	7	c.186 others(26): Show c.1866+1625_1866+1631dupCCCCCCC	POLR1A	ENSG00000068654.17	transcript	ENST00000263857.11	protein_coding	13/33			chr2	TogoVar

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