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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PITPNM3_chr17_6446263_6561555	6561108	T T	TCTCATCC others(13): Show TCTCATCCTCCTTCCCTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(83): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00621.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp2 HG03492.hp2 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18951.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18975.hp2 NA18980.hp1 NA18990.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp2 NA19043.hp2 NA19070.hp1 NA19070.hp2 NA19081.hp2 NA19088.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0012 a0001c0022 a0002c0004 a0002c0005 a0002c0009 a0003c0008 a0003c0025 a0004c0013 a0005c0019 a0005c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(57): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0021 a0001c0001t0028 a0001c0001t0029 a0001c0001t0050 a0001c0001t0059 a0001c0001t0060 a0001c0001t0066 a0001c0001t0085 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0031 a0001c0002t0058 a0001c0002t0062 a0001c0002t0070 a0001c0002t0073 a0001c0003t0030 a0001c0003t0032 a0001c0003t0033 a0001c0003t0071 a0001c0003t0077 a0001c0003t0098 a0001c0006t0002 a0001c0006t0009 a0001c0006t0012 a0001c0006t0016 a0001c0006t0054 a0001c0006t0064 a0001c0006t0065 a0001c0007t0006 a0001c0007t0027 a0001c0007t0031 a0001c0007t0035 a0001c0010t0072 a0001c0012t0019 a0001c0012t0068 a0001c0022t0003 a0002c0004t0008 a0002c0004t0014 a0002c0004t0025 a0002c0004t0038 a0002c0004t0043 a0002c0004t0044 a0002c0005t0008 a0002c0005t0018 a0002c0005t0063 a0002c0005t0089 a0002c0005t0099 a0002c0009t0006 a0003c0008t0001 a0003c0008t0002 a0003c0025t0020 a0004c0013t0026 a0005c0019t0003 a0005c0020t0016	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0016 others(83): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0044 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0002g0071 a0001c0001t0005g0084 a0001c0001t0005g0092 a0001c0001t0006g0035 a0001c0001t0013g0027 a0001c0001t0021g0091 a0001c0001t0028g0078 a0001c0001t0029g0054 a0001c0001t0050g0065 a0001c0001t0059g0062 a0001c0001t0060g0037 a0001c0001t0066g0045 a0001c0001t0085g0076 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0104 a0001c0002t0002g0088 a0001c0002t0003g0047 a0001c0002t0003g0050 a0001c0002t0003g0061 a0001c0002t0003g0068 a0001c0002t0031g0132 a0001c0002t0058g0024 a0001c0002t0062g0036 a0001c0002t0070g0018 a0001c0002t0073g0085 a0001c0003t0030g0069 a0001c0003t0030g0070 a0001c0003t0032g0010 a0001c0003t0033g0030 a0001c0003t0071g0161 a0001c0003t0077g0090 a0001c0003t0098g0009 a0001c0006t0002g0011 a0001c0006t0009g0013 a0001c0006t0009g0053 a0001c0006t0009g0083 a0001c0006t0012g0105 a0001c0006t0012g0107 a0001c0006t0016g0046 a0001c0006t0054g0014 a0001c0006t0064g0015 a0001c0006t0065g0012 a0001c0007t0006g0022 a0001c0007t0006g0025 a0001c0007t0027g0026 a0001c0007t0027g0034 a0001c0007t0031g0023 a0001c0007t0035g0072 a0001c0010t0072g0017 a0001c0012t0019g0031 a0001c0012t0068g0093 a0001c0022t0003g0019 a0002c0004t0008g0080 a0002c0004t0014g0056 a0002c0004t0025g0052 a0002c0004t0025g0077 a0002c0004t0038g0033 a0002c0004t0043g0079 a0002c0004t0044g0081 a0002c0005t0008g0098 a0002c0005t0018g0007 a0002c0005t0018g0055 a0002c0005t0063g0095 a0002c0005t0089g0074 a0002c0005t0099g0086 a0002c0009t0006g0063 a0003c0008t0001g0101 a0003c0008t0001g0102 a0003c0008t0002g0064 a0003c0008t0002g0089 a0003c0008t0002g0108 a0003c0025t0020g0100 a0004c0013t0026g0075 a0005c0019t0003g0058 a0005c0020t0016g0087	86	218	0.3945	20	c.-47 others(31): Show c.-4703_-4702insGAAGAGGGAAGGAGGATGAG		PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding					4554		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561410	C C	CCCTCCTC others(13): Show CCCTCCTCCTCTTCCTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 NA20300.hp1 HG00408.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0019 a0001c0001t0001 a0001c0014t0019	a0001c0001t0001g0049 a0001c0014t0019g0001 a0001c0001t0001g0049 a0001c0014t0019g0001	2	218	0.0092	20	c.-50 others(31): Show c.-5005_-5004insAGGGGAGGAAGAGGAGGAGG		PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding					4856		chr17	TogoVar
PITRM1_chr10_3132728_3177782	3171146	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0306 a0001c0005t0002g0306	1	446	0.0022	20	c.57- others(33): Show c.57-941_57-940insTTTTTTTTTTTTTTTTTTTT		PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding	1/26						chr10	TogoVar
PITX3_chr10_102225189_102246512	102242928	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	410	0.0024	20	c.-16 others(31): Show c.-1609_-1608insTTTTTTTTTTTTTTTTTTTT		PITX3	ENSG00000107859.11	transcript	ENST00000370002.8	protein_coding					1417		chr10	TogoVar
PIWIL2_chr8_22270316_22362568	22351432	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0248 a0002c0003t0003g0248	1	296	0.0034	20	c.240 others(39): Show c.2404-1524_2404-1523insTATATATATATATATATATA		PIWIL2	ENSG00000197181.12	transcript	ENST00000356766.11	protein_coding	20/22					INFO_REALIGN_3_PRIME	chr8	TogoVar
PIWIL2_chr8_22270316_22362568	22351436	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG04199.hp2 NA18947.hp2 others(1): Show HG02027.hp2 HG04199.hp2 NA18947.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013	a0001c0001t0003g0237 a0001c0001t0003g0255 a0001c0001t0004g0211 others(1): Show a0001c0001t0003g0237 a0001c0001t0003g0255 a0001c0001t0004g0211 a0001c0001t0013g0240	4	296	0.0135	20	c.240 others(39): Show c.2404-1520_2404-1519insTATATATATATATATATATA		PIWIL2	ENSG00000197181.12	transcript	ENST00000356766.11	protein_coding	20/22					INFO_REALIGN_3_PRIME	chr8	TogoVar
PIWIL3_chr22_24714034_24779720	24757615	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG04115.hp2 HG01516.hp2 HG01517.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0346 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0346	3	386	0.0078	20	c.355 others(35): Show c.355+273_355+292dupGTGTGTGTGTGTGTGTGTGT		PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20						chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24760780	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG01891.hp1 others(15): Show HG00323.hp2 HG00408.hp1 HG01891.hp1 HG02004.hp2 HG02027.hp2 NA18939.hp2 NA18969.hp1 NA18971.hp1 NA18980.hp2 NA18983.hp2 NA18990.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp2 NA19057.hp2 NA19068.hp2 NA19090.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 a0001c0001 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 a0001c0001t0001 a0001c0006t0001 a0001c0007t0001	a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0235 others(14): Show a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0235 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0276 a0001c0001t0001g0284 a0001c0001t0001g0296 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0006t0001g0008 a0001c0006t0001g0258 a0001c0007t0001g0270	18	386	0.0466	20	c.103 others(35): Show c.103-811_103-792dupTTTTTTTTTTTTTTTTTTTT		PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	2/20						chr22	TogoVar
PIWIL3_chr22_24714034_24779720	24764625	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG03239.hp2 others(5): Show HG01884.hp1 HG01891.hp1 HG03239.hp2 HG03540.hp1 NA18979.hp1 NA19002.hp2 NA19068.hp1 NA19083.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0002 a0001c0001t0001 a0003c0005t0002	a0001c0001t0001g0218 a0001c0001t0001g0242 a0001c0001t0001g0243 others(5): Show a0001c0001t0001g0218 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0308 a0001c0001t0001g0352 a0001c0001t0001g0357 a0003c0005t0002g0021	8	386	0.0207	20	c.-22 others(37): Show c.-22-2124_-22-2105dupACACACACACACACACACAC		PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	1/20						chr22	TogoVar
PJA1_chrX_69155861_69170453	69169346	A A	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	334	0.0030	20	c.-40 others(31): Show c.-4043_-4042insCTCTCTCTCTCTCTCTCTCT		PJA1	ENSG00000181191.12	transcript	ENST00000374571.5	protein_coding					3894		chrX	TogoVar
PJA2_chr5_109329722_109414974	109340617	T T	TCCCTCTC others(13): Show TCCCTCTCCCTCTCCCCCTCC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03471.hp1 HG02895.hp1 HG02897.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0001t0001g0262	3	346	0.0087	20	c.200 others(39): Show c.2002-3262_2002-3261insGGAGGGGGAGAGGGAGAGGG		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9						chr5	TogoVar
PJA2_chr5_109329722_109414974	109340617	T T	TCCCTCTC others(13): Show TCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18952.hp1 NA18951.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0245 a0001c0001t0001g0230 a0001c0001t0001g0245	2	346	0.0058	20	c.200 others(39): Show c.2002-3262_2002-3261insGGAGAGGGAGAGGGAGAGGG		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9						chr5	TogoVar
PJA2_chr5_109329722_109414974	109340618	C C	CCCTCTCC others(13): Show CCCTCTCCCTCTCCCTCTCCT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0237 a0001c0001t0014g0237	1	346	0.0029	20	c.200 others(39): Show c.2002-3263_2002-3262insAGGAGAGGGAGAGGGAGAGG		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9						chr5	TogoVar
PKD1L1_chr7_47769614_47953466	47864576	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0101 a0001c0006t0001g0101	1	306	0.0033	20	c.414 others(37): Show c.4149+620_4149+639dupGAAAGAAAGAAAGAAAGAAA		PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	26/56						chr7	TogoVar
PKD1L1_chr7_47769614_47953466	47864633	T T	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0022 a0022	a0022c0074 a0022c0074	a0022c0074t0001 a0022c0074t0001	a0022c0074t0001g0141 a0022c0074t0001g0141	1	306	0.0033	20	c.414 others(37): Show c.4149+582_4149+583insGGAAAGAAAGAAAGAAAGAA		PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	26/56						chr7	TogoVar
PKD1L1_chr7_47769614_47953466	47865568	A A	ATTATTTT others(13): Show ATTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01106.hp2 HG01192.hp2 others(33): Show HG00438.hp2 HG01106.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01891.hp2 HG01943.hp2 HG01981.hp2 HG02004.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02258.hp1 HG02602.hp1 HG02683.hp2 HG02717.hp2 HG02738.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03710.hp1 HG03834.hp2 HG04184.hp1 HG06807.hp2 NA18906.hp2 NA18951.hp1 NA18988.hp2 NA19080.hp2 NA19086.hp2 NA19087.hp2 NA20129.hp2 NA20905.hp2	a0001 a0009 a0013 others(15): Show a0001 a0009 a0013 a0014 a0018 a0021 a0028 a0036 a0038 a0047 a0054 a0055 a0056 a0057 a0060 a0062 a0082 a0088	a0001c0038 a0001c0075 a0001c0135 others(27): Show a0001c0038 a0001c0075 a0001c0135 a0001c0137 a0009c0046 a0013c0020 a0013c0039 a0013c0076 a0014c0057 a0014c0127 a0014c0158 a0014c0159 a0014c0165 a0018c0050 a0018c0114 a0018c0155 a0021c0066 a0028c0078 a0036c0049 a0038c0126 a0038c0164 a0047c0138 a0054c0091 a0055c0092 a0056c0090 a0057c0089 a0060c0093 a0062c0062 a0082c0152 a0088c0059	a0001c0038t0001 a0001c0075t0001 a0001c0135t0001 others(27): Show a0001c0038t0001 a0001c0075t0001 a0001c0135t0001 a0001c0137t0001 a0009c0046t0002 a0013c0020t0001 a0013c0039t0001 a0013c0076t0001 a0014c0057t0001 a0014c0127t0001 a0014c0158t0001 a0014c0159t0001 a0014c0165t0001 a0018c0050t0001 a0018c0114t0001 a0018c0155t0001 a0021c0066t0001 a0028c0078t0001 a0036c0049t0001 a0038c0126t0001 a0038c0164t0001 a0047c0138t0001 a0054c0091t0001 a0055c0092t0001 a0056c0090t0001 a0057c0089t0001 a0060c0093t0001 a0062c0062t0001 a0082c0152t0001 a0088c0059t0001	a0001c0038t0001g0025 a0001c0038t0001g0056 a0001c0075t0001g0148 others(33): Show a0001c0038t0001g0025 a0001c0038t0001g0056 a0001c0075t0001g0148 a0001c0135t0001g0083 a0001c0137t0001g0080 a0009c0046t0002g0165 a0009c0046t0002g0299 a0013c0020t0001g0153 a0013c0039t0001g0034 a0013c0039t0001g0035 a0013c0076t0001g0110 a0014c0057t0001g0091 a0014c0057t0001g0248 a0014c0127t0001g0239 a0014c0158t0001g0283 a0014c0159t0001g0280 a0014c0165t0001g0086 a0018c0050t0001g0190 a0018c0050t0001g0209 a0018c0114t0001g0192 a0018c0155t0001g0251 a0021c0066t0001g0010 a0028c0078t0001g0014 a0036c0049t0001g0200 a0036c0049t0001g0203 a0038c0126t0001g0082 a0038c0164t0001g0256 a0047c0138t0001g0084 a0054c0091t0001g0052 a0055c0092t0001g0095 a0056c0090t0001g0130 a0057c0089t0001g0021 a0060c0093t0001g0013 a0062c0062t0001g0019 a0082c0152t0001g0257 a0088c0059t0001g0105	36	306	0.1177	20	c.409 others(37): Show c.4093-316_4093-297dupAATAAAATAAAATAAAATAA		PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	25/56						chr7	TogoVar
PKD1L1_chr7_47769614_47953466	47880284	A A	ATATATAT others(13): Show ATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0034 a0034	a0034c0047 a0034c0047	a0034c0047t0003 a0034c0047t0003	a0034c0047t0003g0062 a0034c0047t0003g0062	1	306	0.0033	20	c.352 others(37): Show c.3520+443_3520+444insAAAAAAAAAAAAAATATATA		PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	21/56						chr7	TogoVar
PKD1L1_chr7_47769614_47953466	47880284	A A	ATATATTT others(13): Show ATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0001 a0016c0022t0001	a0016c0022t0001g0231 a0016c0022t0001g0231	1	306	0.0033	20	c.352 others(37): Show c.3520+443_3520+444insAAAAAAAAAAAAAAAATATA		PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	21/56						chr7	TogoVar
PKD1L1_chr7_47769614_47953466	47902033	G G	GGAAAAGA others(13): Show GGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03098.hp1 HG02717.hp2 HG03098.hp1	a0001 a0062 a0001 a0062	a0001c0137 a0062c0062 a0001c0137 a0062c0062	a0001c0137t0001 a0062c0062t0001 a0001c0137t0001 a0062c0062t0001	a0001c0137t0001g0080 a0062c0062t0001g0019 a0001c0137t0001g0080 a0062c0062t0001g0019	2	306	0.0065	20	c.206 others(37): Show c.2064+326_2064+345dupTTTTCTTTTCTTTTCTTTTC		PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	13/56						chr7	TogoVar
PKD1L1_chr7_47769614_47953466	47910826	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02074.hp1 HG03098.hp1 others(1): Show HG01891.hp2 HG02074.hp1 HG03098.hp1 NA18906.hp2	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0028	a0001c0137 a0002c0003 a0009c0046 others(1): Show a0001c0137 a0002c0003 a0009c0046 a0028c0078	a0001c0137t0001 a0002c0003t0001 a0009c0046t0002 others(1): Show a0001c0137t0001 a0002c0003t0001 a0009c0046t0002 a0028c0078t0001	a0001c0137t0001g0080 a0002c0003t0001g0161 a0009c0046t0002g0299 others(1): Show a0001c0137t0001g0080 a0002c0003t0001g0161 a0009c0046t0002g0299 a0028c0078t0001g0014	4	306	0.0131	20	c.122 others(39): Show c.1229-2596_1229-2577dupCACACACACACACACACACA		PKD1L1	ENSG00000158683.10	transcript	ENST00000289672.7	protein_coding	8/56						chr7	TogoVar
PKD1L3_chr16_71924538_72005402	71951585	C C	CCCTGCTG others(13): Show CCCTGCTGATGACAGCCTTGA	frameshift_variant frameshift_variant	HIGH	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0068 a0001c0068	a0001c0068t0001 a0001c0068t0001	a0001c0068t0001g0176 a0001c0068t0001g0176	1	308	0.0033	20	c.316 others(29): Show c.3168_3169insTCAAGGCTGTCATCAGCAGG	p.Gly others(6): Show p.Gly1057fs	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	19/30	3592/5623	3168/5199	1056/1732			chr16	TogoVar
PKD1_chr16_2083708_2140898	2097870	C C	CAGCGTGG others(13): Show CAGCGTGGAGGCCTGAGAACG	frameshift_variant frameshift_variant	HIGH	HG01978.hp2 HG01978.hp2	a0042 a0042	a0042c0035 a0042c0035	a0042c0035t0001 a0042c0035t0001	a0042c0035t0001g0086 a0042c0035t0001g0086	1	216	0.0046	20	c.101 others(31): Show c.10145_10164dupCGTTCTCAGGCCTCCACGCT	p.Glu others(6): Show p.Glu3389fs	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	31/46	10373/14140	10164/12912	3388/4303			chr16	TogoVar
PKD1_chr16_2083708_2140898	2136321	T T	TGATCCTT others(13): Show TGATCCTTCTTCCGCGGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0002 a0010c0010t0002	a0010c0010t0002g0197 a0010c0010t0002g0197	1	216	0.0046	20	c.-63 others(29): Show c.-633_-632insCACACCGCGGAAGAAGGATC		PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding					424		chr16	TogoVar
PKD2L1_chr10_100283149_100335228	100306855	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp1 HG02970.hp1 others(1): Show HG02451.hp2 HG02922.hp1 HG02970.hp1 NA19240.hp1	a0004 a0004	a0004c0005 a0004c0015 a0004c0005 a0004c0015	a0004c0005t0001 a0004c0015t0001 a0004c0005t0001 a0004c0015t0001	a0004c0005t0001g0187 a0004c0005t0001g0214 a0004c0015t0001g0211 others(1): Show a0004c0005t0001g0187 a0004c0005t0001g0214 a0004c0015t0001g0211 a0004c0015t0001g0213	4	306	0.0131	20	c.350 others(37): Show c.350-7138_350-7137insTTTTTTTTTTTTTTTTTTTT		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100321663	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03490.hp2 NA18950.hp2 HG03490.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0115 a0001c0001t0001g0075 a0001c0001t0001g0115	2	306	0.0065	20	c.349 others(37): Show c.349+7528_349+7547dupCTTTCTTTCTTTCTTTCTTT		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100321756	A A	AAAGAAAG others(13): Show AAAGAAAGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0277 a0005c0006t0001g0277	1	306	0.0033	20	c.349 others(37): Show c.349+7454_349+7455insCCCTCCCTCCCTCCTTTCTT		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100321756	A A	AAGGGAGG others(13): Show AAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG03017.hp1 HG00597.hp1 HG03017.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0055 a0002c0003t0001g0106 a0001c0001t0001g0055 a0002c0003t0001g0106	2	306	0.0065	20	c.349 others(37): Show c.349+7435_349+7454dupCCCTCCCTCCCTCCCTCCCT		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100321886	G G	GGGAAGGA others(13): Show GGGAAGGAAGCAAGCAAGGAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02896.hp2 HG01433.hp2 HG02896.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0031 a0001c0001 a0014c0031	a0001c0001t0001 a0014c0031t0001 a0001c0001t0001 a0014c0031t0001	a0001c0001t0001g0275 a0014c0031t0001g0302 a0001c0001t0001g0275 a0014c0031t0001g0302	2	306	0.0065	20	c.349 others(37): Show c.349+7324_349+7325insTTCCTTGCTTGCTTCCTTCC		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100321890	G G	GGGAAGCA others(13): Show GGGAAGCAAGCAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02559.hp1 others(1): Show HG01109.hp2 HG01891.hp1 HG02559.hp1 HG03098.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0218 a0004c0005t0001g0220 a0004c0005t0001g0221 others(1): Show a0004c0005t0001g0218 a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222	4	306	0.0131	20	c.349 others(37): Show c.349+7320_349+7321insTTCCTTCCTTGCTTGCTTCC		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100321890	G G	GGGAAGGA others(13): Show GGGAAGGAAGCAAGCAAGGAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01952.hp2 HG02258.hp1 others(6): Show HG01934.hp2 HG01952.hp2 HG02258.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp2 NA18952.hp1 NA18952.hp2 NA19060.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0017 others(2): Show a0001c0001 a0001c0002 a0001c0017 a0005c0006 a0006c0007	a0001c0001t0001 a0001c0002t0001 a0001c0017t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0017t0001 a0005c0006t0001 a0006c0007t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 others(6): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0002t0001g0013 a0001c0017t0001g0010 a0005c0006t0001g0066 a0006c0007t0001g0012 a0006c0007t0001g0022	9	306	0.0294	20	c.349 others(37): Show c.349+7320_349+7321insTTCCTTGCTTGCTTCCTTCC		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100321894	G G	GGGAAGCA others(13): Show GGGAAGCAAGCAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0226 a0011c0014t0001g0226	1	306	0.0033	20	c.349 others(37): Show c.349+7316_349+7317insTTCCTTCCTTGCTTGCTTCC		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100321894	G G	GGGAGGGA others(13): Show GGGAGGGAAGGAAGCAAGGAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0002 a0001c0029t0002	a0001c0029t0002g0005 a0001c0029t0002g0005	1	306	0.0033	20	c.349 others(37): Show c.349+7316_349+7317insTTCCTTGCTTCCTTCCCTCC		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100321904	C C	CAAGGAAG others(13): Show CAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	306	0.0033	20	c.349 others(37): Show c.349+7287_349+7306dupCCTTCCTTCCTTCCTTCCTT		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar
PKD2_chr4_88002635_88082777	88060441	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18983.hp2 HG00597.hp2 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0003 a0001c0001t0003 a0002c0003t0003	a0001c0001t0003g0301 a0002c0003t0003g0069 a0001c0001t0003g0301 a0002c0003t0003g0069	2	342	0.0059	20	c.202 others(39): Show c.2020-1449_2020-1448insATATATATATATATATATAT		PKD2	ENSG00000118762.8	transcript	ENST00000237596.7	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr4	TogoVar
PKHD1L1_chr8_109357461_109542207	109410726	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02896.hp1 NA19240.hp1 HG02615.hp2 HG02896.hp1 NA19240.hp1	a0007 a0026 a0040 a0007 a0026 a0040	a0007c0072 a0026c0016 a0040c0067 a0007c0072 a0026c0016 a0040c0067	a0007c0072t0001 a0026c0016t0008 a0040c0067t0005 a0007c0072t0001 a0026c0016t0008 a0040c0067t0005	a0007c0072t0001g0053 a0026c0016t0008g0139 a0040c0067t0005g0115 a0007c0072t0001g0053 a0026c0016t0008g0139 a0040c0067t0005g0115	3	282	0.0106	20	c.208 others(37): Show c.2085+750_2085+769dupTTTTTTTTTTTTTTTTTTTT		PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	19/77					INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1L1_chr8_109357461_109542207	109487890	G G	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03710.hp1 NA20905.hp2 HG02615.hp2 HG03710.hp1 NA20905.hp2	a0002 a0040 a0068 a0002 a0040 a0068	a0002c0002 a0040c0067 a0068c0048 a0002c0002 a0040c0067 a0068c0048	a0002c0002t0001 a0040c0067t0005 a0068c0048t0001 a0002c0002t0001 a0040c0067t0005 a0068c0048t0001	a0002c0002t0001g0086 a0040c0067t0005g0115 a0068c0048t0001g0105 a0002c0002t0001g0086 a0040c0067t0005g0115 a0068c0048t0001g0105	3	282	0.0106	20	c.988 others(39): Show c.9880+1103_9880+1122dupGGAAGGAAGGAAGGAAGGAA		PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	59/77					INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1L1_chr8_109357461_109542207	109538047	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0067 a0067	a0067c0041 a0067c0041	a0067c0041t0022 a0067c0041t0022	a0067c0041t0022g0134 a0067c0041t0022g0134	1	282	0.0036	20	c.79 others(31): Show c.7957_*7958insTTTTTTTTTTTTTTTTTTTT		PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding					841		chr8	TogoVar
PKHD1_chr6_51610299_52092613	51699920	A A	AGTGTGTA others(13): Show AGTGTGTATGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG04228.hp1 NA18747.hp2 others(5): Show HG01433.hp2 HG04228.hp1 NA18747.hp2 NA18971.hp1 NA18975.hp1 NA19003.hp2 NA19005.hp2 NA19090.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0021 a0040	a0001c0002 a0001c0019 a0002c0004 others(5): Show a0001c0002 a0001c0019 a0002c0004 a0002c0033 a0002c0092 a0004c0006 a0021c0045 a0040c0081	a0001c0002t0001 a0001c0019t0001 a0002c0004t0004 others(5): Show a0001c0002t0001 a0001c0019t0001 a0002c0004t0004 a0002c0033t0002 a0002c0092t0004 a0004c0006t0003 a0021c0045t0001 a0040c0081t0001	a0001c0002t0001g0083 a0001c0019t0001g0097 a0002c0004t0004g0115 others(5): Show a0001c0002t0001g0083 a0001c0019t0001g0097 a0002c0004t0004g0115 a0002c0033t0002g0017 a0002c0092t0004g0002 a0004c0006t0003g0040 a0021c0045t0001g0036 a0040c0081t0001g0124	8	134	0.0597	20	c.101 others(43): Show c.10157-39952_10157-39951insACACACACACACATACACAC		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	60/66						chr6	TogoVar
PKHD1_chr6_51610299_52092613	51766615	A A	ATATTTTT others(13): Show ATATTTTTATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01433.hp1 HG03041.hp1 others(2): Show HG01074.hp2 HG01433.hp1 HG03041.hp1 HG03139.hp1 NA18989.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0018 a0045	a0001c0093 a0002c0020 a0005c0040 others(2): Show a0001c0093 a0002c0020 a0005c0040 a0018c0052 a0045c0084	a0001c0093t0001 a0002c0020t0003 a0005c0040t0001 others(2): Show a0001c0093t0001 a0002c0020t0003 a0005c0040t0001 a0018c0052t0006 a0045c0084t0006	a0001c0093t0001g0127 a0002c0020t0003g0084 a0005c0040t0001g0029 others(2): Show a0001c0093t0001g0127 a0002c0020t0003g0084 a0005c0040t0001g0029 a0018c0052t0006g0086 a0045c0084t0006g0087	5	134	0.0373	20	c.864 others(39): Show c.8642+6086_8642+6087insAAAAAAAAAAAATAAAAATA		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	55/66						chr6	TogoVar
PKHD1_chr6_51610299_52092613	51903832	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp2 HG02809.hp1 HG02809.hp2	a0001 a0006 a0001 a0006	a0001c0094 a0006c0011 a0001c0094 a0006c0011	a0001c0094t0001 a0006c0011t0005 a0001c0094t0001 a0006c0011t0005	a0001c0094t0001g0131 a0006c0011t0005g0063 a0001c0094t0001g0131 a0006c0011t0005g0063	2	134	0.0149	20	c.686 others(37): Show c.6866-125_6866-106dupATATATATATATATATATAT		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	42/66						chr6	TogoVar
PKHD1_chr6_51610299_52092613	51950218	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0085 a0002c0004t0003g0085	1	134	0.0075	20	c.590 others(39): Show c.5908+9651_5908+9652insATATATATATATATATATAT		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	36/66						chr6	TogoVar
PKHD1_chr6_51610299_52092613	51950220	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0038 a0038	a0038c0062 a0038c0062	a0038c0062t0002 a0038c0062t0002	a0038c0062t0002g0065 a0038c0062t0002g0065	1	134	0.0075	20	c.590 others(39): Show c.5908+9649_5908+9650insATATATTTTTTTTTTTTTTT		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	36/66						chr6	TogoVar
PKHD1_chr6_51610299_52092613	51950220	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0024 a0024	a0024c0068 a0024c0068	a0024c0068t0001 a0024c0068t0001	a0024c0068t0001g0091 a0024c0068t0001g0091	1	134	0.0075	20	c.590 others(39): Show c.5908+9649_5908+9650insATATATATTTTTTTTTTTTT		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	36/66						chr6	TogoVar
PKHD1_chr6_51610299_52092613	51950220	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03239.hp1 HG01081.hp1 HG03239.hp1	a0002 a0004 a0002 a0004	a0002c0004 a0004c0014 a0002c0004 a0004c0014	a0002c0004t0003 a0004c0014t0004 a0002c0004t0003 a0004c0014t0004	a0002c0004t0003g0126 a0004c0014t0004g0024 a0002c0004t0003g0126 a0004c0014t0004g0024	2	134	0.0149	20	c.590 others(39): Show c.5908+9649_5908+9650insATATATATATATATTTTTTT		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	36/66						chr6	TogoVar
PKHD1_chr6_51610299_52092613	51950220	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01433.hp2 HG04184.hp1 HG01243.hp2 HG01433.hp2 HG04184.hp1	a0001 a0017 a0021 a0001 a0017 a0021	a0001c0032 a0017c0089 a0021c0045 a0001c0032 a0017c0089 a0021c0045	a0001c0032t0001 a0017c0089t0002 a0021c0045t0001 a0001c0032t0001 a0017c0089t0002 a0021c0045t0001	a0001c0032t0001g0075 a0017c0089t0002g0116 a0021c0045t0001g0036 a0001c0032t0001g0075 a0017c0089t0002g0116 a0021c0045t0001g0036	3	134	0.0224	20	c.590 others(39): Show c.5908+9649_5908+9650insATATATATATATATATTTTT		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	36/66						chr6	TogoVar
PKHD1_chr6_51610299_52092613	51950220	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0029 a0029	a0029c0070 a0029c0070	a0029c0070t0008 a0029c0070t0008	a0029c0070t0008g0090 a0029c0070t0008g0090	1	134	0.0075	20	c.590 others(39): Show c.5908+9649_5908+9650insATATATATATATATATATTT		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	36/66						chr6	TogoVar
PKHD1_chr6_51610299_52092613	51966885	T T	TGATTGGA others(13): Show TGATTGGATTGGATTGGATTG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0027 a0027	a0027c0069 a0027c0069	a0027c0069t0018 a0027c0069t0018	a0027c0069t0018g0092 a0027c0069t0018g0092	1	134	0.0075	20	c.575 others(39): Show c.5752-6879_5752-6860dupCAATCCAATCCAATCCAATC		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66						chr6	TogoVar
PKHD1_chr6_51610299_52092613	51976944	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0079 a0002c0079	a0002c0079t0007 a0002c0079t0007	a0002c0079t0007g0089 a0002c0079t0007g0089	1	134	0.0075	20	c.575 others(41): Show c.5752-16938_5752-16919dupTTTTTTTTTTTTTTTTTTTT		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66						chr6	TogoVar
PKHD1_chr6_51610299_52092613	52065168	T T	TATATAGA others(13): Show TATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0132 a0001c0022t0001g0132	1	134	0.0075	20	c.881 others(35): Show c.881-119_881-118insCTCTCTCTCTCTCTCTATAT		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	12/66						chr6	TogoVar
PKHD1_chr6_51610299_52092613	52065168	T T	TATATATA others(13): Show TATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	134	0.0075	20	c.881 others(35): Show c.881-119_881-118insCTCTCTCTCTCTCTATATAT		PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	12/66						chr6	TogoVar

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