Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PDXDC1_chr16_14970026_15043332	14984469	G G	GTATACAT others(11): Show GTATACATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0108 a0002c0002t0001g0108	1	279	0.0036	18	c.21+ others(33): Show c.21+9250_21+9251insATACATATATATATATAT	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDXDC1_chr16_14970026_15043332	14984495	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0088 a0002c0002t0001g0088	1	279	0.0036	18	c.21+ others(33): Show c.21+9276_21+9277insATATATATATATATATTT	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDXDC1_chr16_14970026_15043332	14984495	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0089 a0002c0002t0001g0089	1	279	0.0036	18	c.21+ others(33): Show c.21+9276_21+9277insATATATATATATTTTTTT	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDXDC1_chr16_14970026_15043332	15032668	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp1 HG00642.hp2 others(11): Show HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG01123.hp1 HG01975.hp1 HG02135.hp1 HG02886.hp1 HG03654.hp1 HG04199.hp2 NA18961.hp1 NA18972.hp2 NA19001.hp1 NA20752.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0012 a0002c0002 a0007c0012	a0002c0002t0001 a0002c0002t0008 a0007c0012t0001 a0002c0002t0001 a0002c0002t0008 a0007c0012t0001	a0002c0002t0001g0011 a0002c0002t0001g0029 a0002c0002t0001g0033 others(11): Show a0002c0002t0001g0011 a0002c0002t0001g0029 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0048 a0002c0002t0001g0056 a0002c0002t0001g0088 a0002c0002t0001g0098 a0002c0002t0001g0108 a0002c0002t0001g0174 a0002c0002t0008g0104 a0002c0002t0008g0105 a0007c0012t0001g0086	14	279	0.0502	18	c.157 others(35): Show c.1572-192_1572-191insAAAAAAAAAAAAAAAAGA	PDXDC1	ENSG00000179889.20	transcript	ENST00000396410.9	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDYN_chr20_1973759_1999058	1996802	A A	ACACACAC others(11): Show ACACACACACACACACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 NA20129.hp2 HG02486.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0018 a0001c0002t0003 a0001c0002t0018	a0001c0002t0003g0012 a0001c0002t0018g0158 a0001c0002t0003g0012 a0001c0002t0018g0158	2	390	0.0051	18	c.-29 others(29): Show c.-2972_-2971insCGTGTGTGTGTGTGTGTG	PDYN	ENSG00000101327.9	transcript	ENST00000217305.3	protein_coding		2745		chr20	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0185 a0001c0001t0017g0185	1	216	0.0046	18	c.-36 others(39): Show c.-361+49917_-361+49918insATATATATATATATTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(11): Show ATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0021 a0002c0002t0003g0021	1	216	0.0046	18	c.-36 others(39): Show c.-361+49917_-361+49918insATATATATATTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0010 a0004c0006t0010	a0004c0006t0010g0173 a0004c0006t0010g0173	1	216	0.0046	18	c.-36 others(39): Show c.-361+49917_-361+49918insATATATATTTTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31816287	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0197 a0002c0003t0002g0197	1	216	0.0046	18	c.476 others(37): Show c.476+16578_476+16579insAAAAAAAAAAAAAAAAAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31850243	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0040 a0001c0001t0010g0040	1	216	0.0046	18	c.476 others(37): Show c.476+50520_476+50521insTATATATATATATATACA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31872142	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02602.hp2 HG02818.hp1 others(4): Show HG02258.hp1 HG02602.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG03927.hp2 HG04184.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0009 a0019	a0001c0001 a0002c0002 a0003c0004 others(3): Show a0001c0001 a0002c0002 a0003c0004 a0004c0006 a0009c0020 a0019c0046	a0001c0001t0017 a0002c0002t0006 a0003c0004t0011 others(3): Show a0001c0001t0017 a0002c0002t0006 a0003c0004t0011 a0004c0006t0007 a0009c0020t0001 a0019c0046t0014	a0001c0001t0017g0185 a0002c0002t0006g0155 a0003c0004t0011g0051 others(4): Show a0001c0001t0017g0185 a0002c0002t0006g0155 a0003c0004t0011g0051 a0003c0004t0011g0124 a0004c0006t0007g0202 a0009c0020t0001g0188 a0019c0046t0014g0157	7	216	0.0324	18	c.476 others(37): Show c.476+72429_476+72446dupGTGTGTGTGTGTGTGTGT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31878555	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0007 a0004c0006t0007	a0004c0006t0007g0201 a0004c0006t0007g0201	1	216	0.0046	18	c.476 others(37): Show c.476+78838_476+78855dupTTTTTTTTTTTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31969509	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG01109.hp2 others(8): Show HG00597.hp1 HG00621.hp1 HG01109.hp2 HG01358.hp2 HG03492.hp2 HG03831.hp2 NA18522.hp2 NA18953.hp2 NA18968.hp1 NA19005.hp2 NA19009.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0027	a0001c0001 a0001c0026 a0002c0002 others(5): Show a0001c0001 a0001c0026 a0002c0002 a0002c0003 a0003c0004 a0003c0038 a0004c0006 a0027c0025	a0001c0001t0001 a0001c0026t0002 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0026t0002 a0002c0002t0001 a0002c0003t0002 a0003c0004t0001 a0003c0038t0001 a0004c0006t0010 a0027c0025t0001	a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0026t0002g0077 others(8): Show a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0026t0002g0077 a0002c0002t0001g0111 a0002c0002t0001g0126 a0002c0002t0001g0153 a0002c0003t0002g0108 a0003c0004t0001g0163 a0003c0038t0001g0055 a0004c0006t0010g0206 a0027c0025t0001g0125	11	216	0.0509	18	c.477 others(37): Show c.477-13637_477-13620dupAAAAAAAAAAAAAAAAAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	32025591	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	216	0.0046	18	c.140 others(39): Show c.1408-11629_1408-11612dupTTTTTTTTTTTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	32063027	A A	ATATTATT others(11): Show ATATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp1 HG01109.hp2 others(10): Show HG00735.hp2 HG01081.hp1 HG01109.hp2 HG01358.hp2 HG01891.hp2 HG01978.hp2 HG02080.hp1 HG02080.hp2 HG02145.hp2 HG02683.hp2 HG03098.hp2 NA18953.hp1 NA19030.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0011 a0024 a0025 a0029	a0001c0022 a0002c0002 a0002c0011 others(7): Show a0001c0022 a0002c0002 a0002c0011 a0002c0040 a0003c0038 a0005c0009 a0011c0065 a0024c0054 a0025c0037 a0029c0055	a0001c0022t0001 a0002c0002t0001 a0002c0002t0003 others(8): Show a0001c0022t0001 a0002c0002t0001 a0002c0002t0003 a0002c0011t0001 a0002c0040t0032 a0003c0038t0001 a0005c0009t0009 a0011c0065t0004 a0024c0054t0009 a0025c0037t0001 a0029c0055t0028	a0001c0022t0001g0087 a0002c0002t0001g0076 a0002c0002t0001g0084 others(10): Show a0001c0022t0001g0087 a0002c0002t0001g0076 a0002c0002t0001g0084 a0002c0002t0001g0126 a0002c0002t0003g0021 a0002c0011t0001g0082 a0002c0040t0032g0105 a0003c0038t0001g0055 a0005c0009t0009g0063 a0011c0065t0004g0168 a0024c0054t0009g0039 a0025c0037t0001g0127 a0029c0055t0028g0054	13	216	0.0602	18	c.245 others(37): Show c.2451+1910_2451+1927dupATTATTATTATTATTATT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD7_chr10_101002679_101036129	101019542	G G	GCCTCCTC others(11): Show GCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG00733.hp2 others(20): Show HG00323.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01099.hp1 HG01109.hp1 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01515.hp1 HG01981.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02735.hp2 HG02809.hp1 HG03471.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0008	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0008c0009	a0001c0001t0001 a0001c0001t0007 a0002c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0007 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0017 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0005 a0005c0005t0001 a0008c0009t0002	a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0281 others(20): Show a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0281 a0001c0001t0001g0354 a0001c0001t0001g0384 a0001c0001t0007g0311 a0001c0001t0007g0359 a0002c0002t0001g0357 a0002c0002t0002g0310 a0002c0002t0004g0299 a0002c0002t0017g0296 a0003c0003t0001g0375 a0003c0003t0001g0417 a0003c0003t0002g0279 a0003c0003t0002g0297 a0003c0003t0003g0098 a0003c0003t0003g0229 a0003c0003t0003g0421 a0003c0003t0004g0306 a0003c0003t0005g0397 a0005c0005t0001g0226 a0005c0005t0001g0228 a0008c0009t0002g0344	23	432	0.0532	18	c.929 others(33): Show c.929-343_929-326dupAGGAGGAGGAGGAGGAGG	PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	7/16			chr10	TogoVar
PDZD8_chr10_117272274_117380440	117342393	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG04204.hp1 HG02559.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0020 a0001c0001t0003 a0001c0001t0020	a0001c0001t0003g0159 a0001c0001t0020g0176 a0001c0001t0003g0159 a0001c0001t0020g0176	2	322	0.0062	18	c.873 others(35): Show c.873-1309_873-1292dupGTGTGTGTGTGTGTGTGT	PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	1/4			chr10	TogoVar
PDZD8_chr10_117272274_117380440	117370918	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01884.hp1 HG02132.hp2 others(6): Show HG00544.hp1 HG01884.hp1 HG02132.hp2 HG02630.hp1 HG06807.hp1 NA18971.hp2 NA19001.hp1 NA19004.hp1 NA19063.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 others(3): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0032 a0001c0002t0038 a0003c0005t0014	a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0004g0117 others(6): Show a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0004g0117 a0001c0002t0008g0095 a0001c0002t0032g0099 a0001c0002t0038g0096 a0003c0005t0014g0103 a0003c0005t0014g0104 a0003c0005t0014g0105	9	322	0.0280	18	c.872 others(35): Show c.872+3420_872+3437dupCACACACACACACACACA	PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	1/4			chr10	TogoVar
PDZRN3_chr3_73377431_73629941	73452839	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02257.hp1 HG02970.hp2 others(6): Show HG01258.hp2 HG02257.hp1 HG02970.hp2 HG03017.hp1 HG03130.hp1 HG03471.hp1 HG03540.hp1 NA18964.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0028	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0001c0005t0002 a0001c0028t0002	a0001c0001t0001g0032 a0001c0001t0001g0131 a0001c0001t0002g0102 others(6): Show a0001c0001t0001g0032 a0001c0001t0001g0131 a0001c0001t0002g0102 a0001c0001t0002g0179 a0001c0002t0001g0103 a0001c0002t0002g0085 a0001c0004t0002g0198 a0001c0005t0002g0211 a0001c0028t0002g0216	9	216	0.0417	18	c.919 others(37): Show c.919-48462_919-48445dupCACACACACACACACACA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73562983	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01069.hp2 HG01071.hp2 others(7): Show HG00438.hp1 HG01069.hp2 HG01071.hp2 HG02004.hp2 HG02717.hp2 NA18940.hp1 NA18984.hp2 NA19009.hp1 NA19011.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0002c0003	a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 others(2): Show a0001c0001t0002 a0001c0004t0001 a0001c0004t0002 a0001c0007t0002 a0002c0003t0001	a0001c0001t0002g0093 a0001c0001t0002g0118 a0001c0001t0002g0146 others(7): Show a0001c0001t0002g0093 a0001c0001t0002g0118 a0001c0001t0002g0146 a0001c0004t0001g0208 a0001c0004t0002g0213 a0001c0007t0002g0008 a0001c0007t0002g0009 a0002c0003t0001g0094 a0002c0003t0001g0107 a0002c0003t0001g0122	10	216	0.0463	18	c.918 others(37): Show c.918+39353_918+39370dupTATATATATATATATATA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73573772	C C	CACATATA others(11): Show CACATATACATATACATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02809.hp2 HG04184.hp2 others(1): Show HG02129.hp2 HG02809.hp2 HG04184.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0003 a0001c0001 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0008t0001 a0002c0003t0005 a0001c0001t0001 a0001c0008t0001 a0002c0003t0005	a0001c0001t0001g0025 a0001c0001t0001g0072 a0001c0008t0001g0115 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0072 a0001c0008t0001g0115 a0002c0003t0005g0057	4	216	0.0185	18	c.918 others(37): Show c.918+28564_918+28581dupATATGTATATGTATATGT	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73573829	A A	ATATACAT others(11): Show ATATACATACACATACACC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	216	0.0046	18	c.918 others(37): Show c.918+28524_918+28525insGGTGTATGTGTATGTATA	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73600337	A A	ACACACAC others(11): Show ACACACACACTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp2 HG02723.hp2 others(4): Show HG02615.hp1 HG02615.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG03195.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0052 a0001c0001t0001g0174 a0001c0001t0001g0175 others(4): Show a0001c0001t0001g0052 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0178 a0001c0002t0002g0172	7	216	0.0324	18	c.918 others(35): Show c.918+2016_918+2017insAGAGAGAGAGTGTGTGTG	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN3_chr3_73377431_73629941	73600337	A A	ACACACAC others(11): Show ACACACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	216	0.0046	18	c.918 others(35): Show c.918+2016_918+2017insAGAGAGAGAGAGTGTGTG	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PDZRN4_chr12_41183320_41579745	41197918	G G	GTTTTTTT others(11): Show GTTTTTTTTTTGTTTGTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18998.hp1 NA19058.hp2 HG03139.hp1 NA18998.hp1 NA19058.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0012 a0002c0002 a0004c0012	a0002c0002t0001 a0004c0012t0001 a0002c0002t0001 a0004c0012t0001	a0002c0002t0001g0087 a0004c0012t0001g0102 a0004c0012t0001g0103 a0002c0002t0001g0087 a0004c0012t0001g0102 a0004c0012t0001g0103	3	206	0.0146	18	c.843 others(35): Show c.843+3730_843+3731insTTTTTTTTTTGTTTGTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9			chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41197918	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTGTTGTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	206	0.0049	18	c.843 others(35): Show c.843+3730_843+3731insTTTTTTTTTTTGTTGTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9			chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41197918	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTGTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0120 a0004c0003t0001g0120	1	206	0.0049	18	c.843 others(35): Show c.843+3730_843+3731insTTTTTTTTTTTTTGTTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9			chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41197918	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00438.hp1 others(58): Show HG00099.hp1 HG00280.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00673.hp2 HG00738.hp2 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01884.hp2 HG02074.hp1 HG02257.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02622.hp2 HG02683.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03704.hp1 HG04115.hp2 HG04228.hp2 NA18612.hp1 NA18942.hp2 NA18945.hp1 NA18950.hp1 NA18954.hp1 NA18955.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA19007.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19086.hp2 NA19088.hp2 NA19240.hp2 NA20905.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0019 a0020 a0021	a0001c0001 a0001c0004 a0001c0011 others(12): Show a0001c0001 a0001c0004 a0001c0011 a0001c0013 a0001c0034 a0001c0042 a0003c0005 a0003c0006 a0003c0036 a0004c0003 a0004c0012 a0004c0040 a0019c0041 a0020c0033 a0021c0039	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0005 a0001c0011t0003 a0001c0013t0001 a0001c0034t0003 a0001c0042t0001 a0003c0005t0001 a0003c0006t0001 a0003c0006t0002 a0003c0036t0001 a0004c0003t0001 a0004c0003t0002 a0004c0012t0001 a0004c0040t0001 a0019c0041t0002 a0020c0033t0006 a0021c0039t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(58): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0086 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0035 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0054 a0001c0001t0002g0061 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0004t0001g0011 a0001c0004t0001g0046 a0001c0004t0001g0056 a0001c0004t0001g0060 a0001c0004t0001g0069 a0001c0004t0001g0072 a0001c0004t0001g0157 a0001c0004t0005g0051 a0001c0011t0003g0034 a0001c0011t0003g0038 a0001c0011t0003g0052 a0001c0011t0003g0055 a0001c0013t0001g0040 a0001c0013t0001g0062 a0001c0013t0001g0068 a0001c0034t0003g0037 a0001c0042t0001g0015 a0003c0005t0001g0048 a0003c0005t0001g0049 a0003c0005t0001g0050 a0003c0005t0001g0053 a0003c0005t0001g0059 a0003c0005t0001g0070 a0003c0005t0001g0071 a0003c0005t0001g0074 a0003c0006t0001g0124 a0003c0006t0002g0073 a0003c0036t0001g0007 a0004c0003t0001g0067 a0004c0003t0001g0104 a0004c0003t0002g0057 a0004c0003t0002g0058 a0004c0012t0001g0039 a0004c0012t0001g0047 a0004c0040t0001g0075 a0019c0041t0002g0065 a0020c0033t0006g0093 a0021c0039t0001g0043	61	206	0.2961	18	c.843 others(35): Show c.843+3730_843+3731insTTTTTTTTTTTTTTGTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9			chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41197919	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0002 a0002c0024t0002	a0002c0024t0002g0134 a0002c0024t0002g0134	1	206	0.0049	18	c.843 others(35): Show c.843+3731_843+3732insTTTTTTTTTTTGTTTTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9			chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41197919	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0001 a0009c0021t0001	a0009c0021t0001g0143 a0009c0021t0001g0143	1	206	0.0049	18	c.843 others(35): Show c.843+3731_843+3732insTTTTTTTTTTTTGTTTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9			chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41214430	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01192.hp2 HG02970.hp2 others(1): Show HG00738.hp1 HG01192.hp2 HG02970.hp2 NA18953.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0006 a0004c0003 a0001c0001 a0003c0006 a0004c0003	a0001c0001t0001 a0003c0006t0001 a0004c0003t0001 a0001c0001t0001 a0003c0006t0001 a0004c0003t0001	a0001c0001t0001g0086 a0003c0006t0001g0095 a0003c0006t0001g0124 others(1): Show a0001c0001t0001g0086 a0003c0006t0001g0095 a0003c0006t0001g0124 a0004c0003t0001g0120	4	206	0.0194	18	c.843 others(37): Show c.843+20245_843+20262dupAAAAAAAAAAAAAAAAAA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41317048	G G	GTATACAT others(11): Show GTATACATACATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18950.hp2 NA19064.hp1 others(1): Show HG03041.hp1 NA18950.hp2 NA19064.hp1 NA19064.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0009 a0003c0005 a0002c0002 a0002c0009 a0003c0005	a0002c0002t0001 a0002c0002t0002 a0002c0009t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0009t0001 a0003c0005t0001	a0002c0002t0001g0192 a0002c0002t0002g0195 a0002c0009t0001g0197 others(1): Show a0002c0002t0001g0192 a0002c0002t0002g0195 a0002c0009t0001g0197 a0003c0005t0001g0017	4	206	0.0194	18	c.843 others(39): Show c.843+122864_843+122865insCATACATATATATATATA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41317048	G G	GTATACAT others(11): Show GTATACATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG02055.hp2 others(7): Show HG00621.hp1 HG00621.hp2 HG02055.hp2 NA18942.hp2 NA18966.hp2 NA18980.hp1 NA19006.hp1 NA19060.hp2 NA19083.hp1 NA20752.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0008	a0001c0011 a0002c0019 a0004c0003 others(4): Show a0001c0011 a0002c0019 a0004c0003 a0004c0012 a0006c0007 a0006c0023 a0008c0056	a0001c0011t0003 a0002c0019t0003 a0004c0003t0001 others(4): Show a0001c0011t0003 a0002c0019t0003 a0004c0003t0001 a0004c0012t0001 a0006c0007t0003 a0006c0023t0002 a0008c0056t0001	a0001c0011t0003g0034 a0001c0011t0003g0038 a0002c0019t0003g0175 others(7): Show a0001c0011t0003g0034 a0001c0011t0003g0038 a0002c0019t0003g0175 a0004c0003t0001g0081 a0004c0012t0001g0039 a0006c0007t0003g0020 a0006c0007t0003g0024 a0006c0023t0002g0030 a0006c0023t0002g0031 a0008c0056t0001g0160	10	206	0.0485	18	c.843 others(39): Show c.843+122864_843+122865insCATATATATATATATATA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41378520	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	206	0.0049	18	c.844 others(39): Show c.844-127934_844-127917dupTTTTTTTTTTTTTTTTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41571335	G G	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp1 HG01981.hp2 others(1): Show HG00544.hp2 HG00673.hp1 HG01981.hp2 HG02698.hp2	a0001 a0002 a0023 a0001 a0002 a0023	a0001c0004 a0002c0022 a0023c0037 a0001c0004 a0002c0022 a0023c0037	a0001c0004t0001 a0002c0022t0001 a0023c0037t0001 a0001c0004t0001 a0002c0022t0001 a0023c0037t0001	a0001c0004t0001g0111 a0001c0004t0001g0157 a0002c0022t0001g0140 others(1): Show a0001c0004t0001g0111 a0001c0004t0001g0157 a0002c0022t0001g0140 a0023c0037t0001g0150	4	206	0.0194	18	c.158 others(36): Show c.1585-1004_1585-987dupTCTCTCTCTCTCTCTCTC	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEAK1_chr15_77103158_77425104	77225666	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0011 a0005c0006t0011	a0005c0006t0011g0256 a0005c0006t0011g0256	1	326	0.0031	18	c.-11 others(39): Show c.-115+26683_-115+26700dupTATATATATATATATATA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	6/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77298197	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18956.hp1 NA19054.hp2 HG02523.hp1 NA18956.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0060 a0001c0001t0001g0088 a0001c0001t0001g0020 a0001c0001t0001g0060 a0001c0001t0001g0088	3	326	0.0092	18	c.-60 others(39): Show c.-602-11711_-602-11694dupAAAAAAAAAAAAAAAAAA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77313702	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0035 a0001c0004t0035	a0001c0004t0035g0185 a0001c0004t0035g0185	1	326	0.0031	18	c.-60 others(39): Show c.-602-27199_-602-27198insCATATATATATATATATA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77313726	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18975.hp2 NA18991.hp2 HG03831.hp2 NA18975.hp2 NA18991.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0192 a0004c0005t0004g0199 a0004c0005t0004g0261 a0004c0005t0004g0192 a0004c0005t0004g0199 a0004c0005t0004g0261	3	326	0.0092	18	c.-60 others(39): Show c.-602-27223_-602-27222insTATATATATATATACACA	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9			chr15	TogoVar
PEAK1_chr15_77103158_77425104	77407932	C C	CATATATA others(11): Show CATATATACACACATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG01167.hp1 others(1): Show HG00280.hp1 HG00642.hp2 HG01167.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0210 a0002c0002t0012g0211 a0002c0002t0012g0286 others(1): Show a0002c0002t0012g0210 a0002c0002t0012g0211 a0002c0002t0012g0286 a0002c0002t0012g0287	4	326	0.0123	18	c.-66 others(39): Show c.-666+12073_-666+12074insATATATGTGTGTATATAT	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	1/9			chr15	TogoVar
PEAR1_chr1_156888718_156921429	156892764	T T	TTTTTTTT others(11): Show TTTTTTTTTTTTGTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 NA19057.hp1 HG01074.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0007 a0001c0002t0003g0081 a0001c0002t0003g0007 a0001c0002t0003g0081	2	384	0.0052	18	c.-10 others(29): Show c.-1083_-1082insTTTTTTTTTTTGTTTTTG	PEAR1	ENSG00000187800.14	transcript	ENST00000292357.8	protein_coding		953		chr1	TogoVar
PEBP1_chr12_118131124_118150584	118135098	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 NA18944.hp2 NA18950.hp1 others(1): Show HG02572.hp1 NA18944.hp2 NA18950.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0029 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0029 a0001c0001t0010g0140	4	426	0.0094	18	c.-11 others(29): Show c.-1112_-1111insTGTGTGTGTGTGTGTGTG	PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding		1025		chr12	TogoVar
PEBP4_chr8_22708251_22932914	22749805	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG01074.hp1 others(28): Show HG00099.hp1 HG00438.hp1 HG01074.hp1 HG01106.hp1 HG01175.hp2 HG01943.hp1 HG02080.hp2 HG02155.hp1 HG02738.hp2 HG03017.hp1 HG03492.hp2 HG03654.hp2 HG03831.hp2 HG03927.hp2 HG04204.hp2 HG04228.hp2 NA18906.hp2 NA18952.hp1 NA18959.hp1 NA18960.hp1 NA18964.hp1 NA18966.hp2 NA18974.hp2 NA18980.hp2 NA18986.hp2 NA19010.hp2 NA19065.hp2 NA19068.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0019	a0001c0001 a0001c0005 a0002c0002 others(5): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0003c0011 a0004c0004 a0004c0008 a0019c0030	a0001c0001t0001 a0001c0001t0002 a0001c0005t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0012 a0003c0003t0003 a0003c0003t0004 a0003c0011t0006 a0004c0004t0004 a0004c0008t0006 a0019c0030t0001	a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0125 others(28): Show a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0125 a0001c0001t0001g0146 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0228 a0001c0001t0002g0241 a0001c0001t0002g0264 a0001c0005t0005g0006 a0001c0005t0005g0009 a0001c0005t0005g0020 a0001c0005t0005g0029 a0002c0002t0001g0065 a0002c0002t0001g0122 a0002c0002t0001g0142 a0002c0002t0002g0194 a0002c0002t0002g0197 a0002c0002t0002g0239 a0002c0002t0012g0161 a0003c0003t0003g0077 a0003c0003t0004g0216 a0003c0003t0004g0226 a0003c0003t0004g0269 a0003c0011t0006g0017 a0004c0004t0004g0195 a0004c0004t0004g0259 a0004c0008t0006g0011 a0019c0030t0001g0157	31	278	0.1115	18	c.358 others(37): Show c.358-22603_358-22586dupAAAAAAAAAAAAAAAAAA	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PEBP4_chr8_22708251_22932914	22795143	G G	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG06807.hp2 HG03130.hp2 HG06807.hp2	a0003 a0007 a0003 a0007	a0003c0003 a0007c0009 a0003c0003 a0007c0009	a0003c0003t0003 a0007c0009t0002 a0003c0003t0003 a0007c0009t0002	a0003c0003t0003g0081 a0007c0009t0002g0172 a0003c0003t0003g0081 a0007c0009t0002g0172	2	278	0.0072	18	c.357 others(37): Show c.357+22493_357+22494insTATATATATATACACACA	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PEBP4_chr8_22708251_22932914	22857241	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02965.hp1 HG02895.hp1 HG02965.hp1	a0005 a0007 a0005 a0007	a0005c0006 a0007c0020 a0005c0006 a0007c0020	a0005c0006t0001 a0007c0020t0002 a0005c0006t0001 a0007c0020t0002	a0005c0006t0001g0096 a0007c0020t0002g0211 a0005c0006t0001g0096 a0007c0020t0002g0211	2	278	0.0072	18	c.259 others(37): Show c.259-39524_259-39507dupGTGTGTGTGTGTGTGTGT	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	3/6			chr8	TogoVar
PEBP4_chr8_22708251_22932914	22860194	A A	ATATATAT others(11): Show ATATATATACACATATATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00438.hp1 others(117): Show HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01358.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02451.hp2 HG02630.hp2 HG02683.hp2 HG02738.hp1 HG02818.hp1 HG03017.hp2 HG03139.hp1 HG03239.hp2 HG03492.hp1 HG03654.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp2 NA18941.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19068.hp2 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0008 a0009 a0010 a0019 a0020	a0001c0001 a0001c0005 a0002c0002 others(12): Show a0001c0001 a0001c0005 a0002c0002 a0002c0014 a0003c0003 a0003c0011 a0003c0013 a0004c0004 a0004c0008 a0008c0010 a0009c0016 a0009c0027 a0010c0015 a0019c0030 a0020c0017	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0005t0005 a0001c0005t0007 a0002c0002t0001 a0002c0002t0002 a0002c0014t0005 a0003c0003t0003 a0003c0003t0004 a0003c0011t0006 a0003c0013t0003 a0004c0004t0003 a0004c0004t0004 a0004c0008t0006 a0008c0010t0004 a0009c0016t0005 a0009c0027t0002 a0010c0015t0005 a0019c0030t0001 a0020c0017t0011	a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0063 others(117): Show a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0129 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0002g0164 a0001c0001t0002g0170 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0193 a0001c0001t0002g0198 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0235 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0005t0001g0160 a0001c0005t0005g0004 a0001c0005t0005g0015 a0001c0005t0005g0019 a0001c0005t0005g0030 a0001c0005t0007g0001 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0065 a0002c0002t0001g0073 a0002c0002t0001g0078 a0002c0002t0001g0091 a0002c0002t0001g0114 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0167 a0002c0002t0002g0178 a0002c0002t0002g0186 a0002c0002t0002g0197 a0002c0002t0002g0203 a0002c0002t0002g0209 a0002c0002t0002g0220 a0002c0002t0002g0223 a0002c0002t0002g0229 a0002c0002t0002g0242 a0002c0002t0002g0276 a0002c0014t0005g0018 a0002c0014t0005g0022 a0003c0003t0003g0074 a0003c0003t0003g0089 a0003c0003t0003g0116 a0003c0003t0003g0124 a0003c0003t0003g0130 a0003c0003t0003g0136 a0003c0003t0004g0213 a0003c0003t0004g0226 a0003c0011t0006g0005 a0003c0011t0006g0017 a0003c0011t0006g0028 a0003c0013t0003g0107 a0004c0004t0003g0054 a0004c0004t0003g0117 a0004c0004t0003g0141 a0004c0004t0004g0180 a0004c0004t0004g0188 a0004c0004t0004g0205 a0004c0004t0004g0217 a0004c0004t0004g0224 a0004c0004t0004g0255 a0004c0004t0004g0256 a0004c0004t0004g0259 a0004c0004t0004g0262 a0004c0004t0004g0267 a0004c0008t0006g0010 a0004c0008t0006g0011 a0004c0008t0006g0016 a0004c0008t0006g0024 a0004c0008t0006g0027 a0008c0010t0004g0169 a0008c0010t0004g0182 a0009c0016t0005g0023 a0009c0016t0005g0025 a0009c0027t0002g0270 a0010c0015t0005g0003 a0010c0015t0005g0021 a0019c0030t0001g0157 a0020c0017t0011g0032	120	278	0.4317	18	c.259 others(37): Show c.259-42460_259-42459insCATATATGTGTATATATA	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	3/6			chr8	TogoVar
PECAM1_chr17_64314415_64395860	64318949	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02965.hp2 HG02572.hp2 HG02965.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0008 a0002c0002 a0004c0008	a0002c0002t0001 a0004c0008t0006 a0002c0002t0001 a0004c0008t0006	a0002c0002t0001g0036 a0004c0008t0006g0117 a0002c0002t0001g0036 a0004c0008t0006g0117	2	288	0.0069	18	c.48 others(29): Show c.4866_*4867insAAAAAAAAAAAAAAAAAA	PECAM1	ENSG00000261371.6	transcript	ENST00000563924.6	protein_coding		465		chr17	TogoVar
PECAM1_chr17_64314415_64395860	64361127	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18522.hp1 NA19240.hp1 HG02818.hp1 NA18522.hp1 NA19240.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0004 a0003c0005t0030 a0003c0005t0003 a0003c0005t0004 a0003c0005t0030	a0003c0005t0003g0139 a0003c0005t0004g0151 a0003c0005t0030g0136 a0003c0005t0003g0139 a0003c0005t0004g0151 a0003c0005t0030g0136	3	288	0.0104	18	c.121 others(35): Show c.1217-713_1217-712insCACACACACACACACACA	PECAM1	ENSG00000261371.6	transcript	ENST00000563924.6	protein_coding	6/15			chr17	TogoVar
PELP1_chr17_4664774_4709137	4694497	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00735.hp1 others(41): Show HG00408.hp1 HG00408.hp2 HG00735.hp1 HG01361.hp1 HG01884.hp2 HG01978.hp2 HG01981.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02145.hp2 HG02257.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02886.hp1 HG02970.hp2 HG03098.hp1 HG03516.hp2 HG03831.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18963.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18995.hp1 NA19006.hp2 NA19083.hp1 NA19083.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0015	a0001c0001 a0001c0002 a0001c0006 others(7): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0025 a0002c0003 a0003c0005 a0005c0011 a0008c0033 a0015c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0008 a0001c0006t0001 a0001c0007t0011 a0001c0007t0016 a0001c0007t0019 a0001c0025t0007 a0002c0003t0003 a0003c0005t0001 a0005c0011t0010 a0008c0033t0003 a0015c0019t0001	a0001c0001t0001g0008 a0001c0001t0001g0045 a0001c0001t0001g0048 others(40): Show a0001c0001t0001g0008 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0084 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0250 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0002g0272 a0001c0001t0009g0081 a0001c0001t0009g0160 a0001c0001t0009g0185 a0001c0002t0008g0086 a0001c0002t0008g0093 a0001c0002t0008g0094 a0001c0006t0001g0096 a0001c0006t0001g0106 a0001c0007t0011g0247 a0001c0007t0011g0248 a0001c0007t0016g0246 a0001c0007t0016g0279 a0001c0007t0019g0245 a0001c0025t0007g0149 a0002c0003t0003g0232 a0002c0003t0003g0242 a0003c0005t0001g0169 a0003c0005t0001g0184 a0003c0005t0001g0190 a0003c0005t0001g0193 a0005c0011t0010g0051 a0008c0033t0003g0289 a0015c0019t0001g0062	44	316	0.1392	18	c.250 others(35): Show c.250-3056_250-3055insTTTTTTTTTTTTTTTTTT	PELP1	ENSG00000141456.16	transcript	ENST00000572293.7	protein_coding	1/16			chr17	TogoVar
PEMT_chr17_17500563_17596708	17576321	G G	GCCCGGGC others(11): Show GCCCGGGCACCCAAACATC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0131 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0131	3	348	0.0086	18	c.204 others(33): Show c.204+581_204+598dupGATGTTTGGGTGCCCGGG	PEMT	ENSG00000133027.18	transcript	ENST00000255389.10	protein_coding	2/6			chr17	TogoVar

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