Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PCDH15_chr10_53797771_54806231	54779484	A A	ATGTGTAT others(45): Show ATGTGTATATATATACACACATATATGTGTGTATATATACACACATATAT GTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0084 a0003c0003t0001g0084	1	102	0.0098	52	c.-29 others(71): Show c.-29+21440_-29+21441insCACATATATGTGTGTATATATACACA CATATATGTGTGTATATATATACACA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54779488	G G	GTGTATAT others(45): Show GTGTATATATACACACATATATGTGTGTATATATACACACATATATGTGT GTA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01884.hp1 others(7): Show HG00738.hp1 HG00741.hp1 HG01884.hp1 HG02622.hp1 HG03098.hp2 HG03492.hp1 HG04184.hp1 NA18945.hp1 NA19240.hp1 NA19240.hp2	a0001 a0003 a0016 others(2): Show a0001 a0003 a0016 a0019 a0025	a0001c0001 a0001c0042 a0003c0003 others(3): Show a0001c0001 a0001c0042 a0003c0003 a0016c0012 a0019c0038 a0025c0030	a0001c0001t0001 a0001c0001t0003 a0001c0042t0016 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0042t0016 a0003c0003t0003 a0003c0003t0004 a0016c0012t0001 a0019c0038t0001 a0025c0030t0018	a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0039 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0039 a0001c0001t0003g0015 a0001c0042t0016g0002 a0003c0003t0003g0033 a0003c0003t0004g0005 a0016c0012t0001g0008 a0019c0038t0001g0040 a0025c0030t0018g0007	10	102	0.0980	52	c.-29 others(71): Show c.-29+21436_-29+21437insTACACACATATATGTGTGTATATATA CACACATATATGTGTGTATATATACA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54436070	A A	AGAAAGAA others(45): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGG AAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	94	0.0106	52	c.158 others(71): Show c.158-57129_158-57128insCTTCCTTCCTTCCTTCCTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTC	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	3/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54779484	A A	ATGTGTAT others(45): Show ATGTGTATATATATACACACATATATGTGTGTATATATACACACATATAT GTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0076 a0003c0005t0001g0076	1	94	0.0106	52	c.-29 others(71): Show c.-29+21440_-29+21441insCACATATATGTGTGTATATATACACA CATATATGTGTGTATATATATACACA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	1/32			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54779488	G G	GTGTATAT others(45): Show GTGTATATATACACACATATATGTGTGTATATATACACACATATATGTGT GTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG01884.hp1 others(7): Show HG00738.hp2 HG00741.hp1 HG01884.hp1 HG02622.hp2 HG03098.hp2 HG03492.hp1 HG04184.hp2 NA18945.hp1 NA19240.hp1 NA19240.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0014 a0021 a0023	a0001c0001 a0003c0003 a0004c0004 others(3): Show a0001c0001 a0003c0003 a0004c0004 a0014c0012 a0021c0038 a0023c0048	a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 others(4): Show a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0014c0012t0001 a0021c0038t0004 a0023c0048t0007	a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0015 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0036 a0003c0003t0001g0030 a0003c0003t0002g0005 a0004c0004t0001g0037 a0014c0012t0001g0008 a0021c0038t0004g0007 a0023c0048t0007g0002	10	94	0.1064	52	c.-29 others(71): Show c.-29+21436_-29+21437insTACACACATATATGTGTGTATATATA CACACATATATGTGTGTATATATACA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	1/32			chr10	TogoVar
PCDH7_chr4_30715369_31151800	30960151	A A	AAGGAAGG others(45): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGA GGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0207 a0001c0001t0039g0207	1	214	0.0047	52	c.339 others(73): Show c.3391+39785_3391+39786insAAGGAAGGAAGGAAGGAAGGAAGG AAGGGAGGGAGGGAGGGAGGGAGGGAGG	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	758761	C C	CTCCGGAC others(45): Show CTCCGGACTCCGGTCTTTCTCCCCGCGTGGCCCCTCTCCCGAGTTCTTCT CCT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	366	0.0027	52	c.463 others(69): Show c.463-2506_463-2505insTCTTTCTCCCCGCGTGGCCCCTCTCCCG AGTTCTTCTCCTTCCGGACTCCGG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	759247	C C	CCGGGTCT others(45): Show CCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGG ACT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0308 a0001c0001t0003g0308	1	366	0.0027	52	c.463 others(69): Show c.463-1998_463-1997insTTCTTCTCCTTCCGGACTCGGGTCTTTC TCCCCGCGCGGCCCCTCTCCCGAG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	759382	C C	CCCGAGTT others(45): Show CCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCC TCT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0088 a0001c0001t0030g0088	1	366	0.0027	52	c.463 others(69): Show c.463-1890_463-1889insCTTCTCCTTCCGGACTCCGGGTCTTTCT CCCCGCGCGGCCCCTCTCCGAGTT	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	759867	G G	GTTCTCGT others(45): Show GTTCTCGTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAG TTC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0022 a0001c0001t0047g0022	1	366	0.0027	52	c.463 others(69): Show c.463-1407_463-1406insGTCCGGACTCCGGGTCTTTCTCCCCGCG CGGCCCCTCTCCCGAGTTCTTCTC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCLO_chr7_82749012_83167884	83096923	A A	AAAAATAT others(45): Show AAAAATATATTAATATTATATAATATAAATATATATAAAAATATATTAAT ATT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG06807.hp1 NA18522.hp1 others(1): Show HG01884.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1	a0012 a0056 a0067 a0012 a0056 a0067	a0012c0009 a0056c0052 a0067c0099 a0012c0009 a0056c0052 a0067c0099	a0012c0009t0013 a0056c0052t0006 a0067c0099t0003 a0012c0009t0013 a0056c0052t0006 a0067c0099t0003	a0012c0009t0013g0033 a0012c0009t0013g0034 a0056c0052t0006g0112 others(1): Show a0012c0009t0013g0033 a0012c0009t0013g0034 a0056c0052t0006g0112 a0067c0099t0003g0081	4	188	0.0213	52	c.330 others(73): Show c.3300+37326_3300+37327insAATATTAATATATTTTTATATATA TTTATATTATATAATATTAATATATTTT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCSK5_chr9_75885673_76367975	76351515	A A	AGAAGGAA others(45): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG02717.hp2 HG02055.hp2 HG02559.hp2 HG02717.hp2	a0002 a0016 a0002 a0016	a0002c0016 a0002c0047 a0016c0028 a0002c0016 a0002c0047 a0016c0028	a0002c0016t0019 a0002c0047t0045 a0016c0028t0061 a0002c0016t0019 a0002c0047t0045 a0016c0028t0061	a0002c0016t0019g0064 a0002c0047t0045g0123 a0016c0028t0061g0044 a0002c0016t0019g0064 a0002c0047t0045g0123 a0016c0028t0061g0044	3	166	0.0181	52	c.506 others(69): Show c.5067+590_5067+591insGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAA	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	36/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK6_chr15_101298933_101494707	101311636	T T	TCCCTCAC others(45): Show TCCCTCACAGCCCACCGCATCATCACACCCTCACAGCTCACCCCATCATT ACA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18954.hp1 NA18986.hp1 NA18945.hp1 NA18954.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0147 a0001c0001t0002g0162 a0001c0003t0002g0120 a0001c0001t0002g0147 a0001c0001t0002g0162 a0001c0003t0002g0120	3	336	0.0089	52	c.269 others(71): Show c.2699+1739_2699+1740insTGTAATGATGGGGTGAGCTGTGAGGG TGTGATGATGCGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311761	C C	CCCCTCAC others(45): Show CCCCTCACAGCCCACCCCATCGTCACACCCTCACAGCTCACCCCATCGTC ACA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02622.hp1 HG02055.hp1 HG02451.hp1 HG02622.hp1	a0001 a0017 a0001 a0017	a0001c0001 a0001c0003 a0017c0046 a0001c0001 a0001c0003 a0017c0046	a0001c0001t0005 a0001c0003t0001 a0017c0046t0001 a0001c0001t0005 a0001c0003t0001 a0017c0046t0001	a0001c0001t0005g0268 a0001c0003t0001g0142 a0017c0046t0001g0242 a0001c0001t0005g0268 a0001c0003t0001g0142 a0017c0046t0001g0242	3	336	0.0089	52	c.269 others(71): Show c.2699+1614_2699+1615insTGTGACGATGGGGTGAGCTGTGAGGG TGTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101387705	C C	CCCTCCCC others(45): Show CCCTCCCCAGACTCTCAGGGAGCATCTCCACCCAGAACCATCTGGCTGGG GGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(184): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18960.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19012.hp1 NA19057.hp2 NA19063.hp1 NA19065.hp2 NA19067.hp2 NA19079.hp1 NA19081.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0012 a0014 a0015 a0017 a0019 a0020 a0021	a0001c0001 a0001c0002 a0001c0003 others(46): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0036 a0001c0037 a0001c0038 a0001c0047 a0001c0054 a0001c0056 a0001c0059 a0001c0061 a0002c0008 a0002c0018 a0002c0031 a0002c0032 a0002c0035 a0003c0015 a0003c0023 a0003c0024 a0003c0062 a0003c0063 a0004c0014 a0004c0049 a0005c0026 a0005c0027 a0005c0069 a0005c0070 a0005c0071 a0006c0030 a0007c0025 a0007c0067 a0008c0022 a0009c0041 a0012c0055 a0014c0050 a0015c0040 a0017c0046 a0019c0033 a0020c0073 a0021c0072	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(76): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0006 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0007t0002 a0001c0007t0006 a0001c0009t0001 a0001c0009t0002 a0001c0010t0001 a0001c0010t0005 a0001c0011t0001 a0001c0011t0002 a0001c0012t0001 a0001c0012t0002 a0001c0013t0001 a0001c0013t0002 a0001c0013t0004 a0001c0036t0001 a0001c0037t0002 a0001c0038t0001 a0001c0047t0002 a0001c0054t0008 a0001c0056t0001 a0001c0059t0001 a0001c0061t0001 a0002c0008t0001 a0002c0018t0001 a0002c0018t0013 a0002c0031t0001 a0002c0032t0003 a0002c0035t0007 a0003c0015t0001 a0003c0015t0003 a0003c0015t0012 a0003c0023t0001 a0003c0023t0002 a0003c0024t0002 a0003c0062t0001 a0003c0063t0001 a0004c0014t0001 a0004c0049t0014 a0005c0026t0001 a0005c0026t0015 a0005c0027t0001 a0005c0069t0004 a0005c0070t0001 a0005c0071t0001 a0006c0030t0001 a0007c0025t0001 a0007c0067t0001 a0008c0022t0001 a0009c0041t0001 a0012c0055t0001 a0014c0050t0004 a0015c0040t0003 a0017c0046t0001 a0019c0033t0001 a0020c0073t0001 a0021c0072t0001	a0001c0001t0001g0173 a0001c0001t0001g0183 a0001c0001t0001g0186 others(184): Show a0001c0001t0001g0173 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0196 a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0247 a0001c0001t0001g0260 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0002g0147 a0001c0001t0002g0162 a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0001t0002g0226 a0001c0001t0002g0250 a0001c0001t0002g0257 a0001c0001t0002g0271 a0001c0001t0002g0292 a0001c0001t0002g0296 a0001c0001t0004g0152 a0001c0001t0004g0154 a0001c0001t0005g0268 a0001c0001t0010g0294 a0001c0002t0001g0149 a0001c0002t0001g0156 a0001c0002t0001g0161 a0001c0002t0001g0174 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0192 a0001c0002t0001g0203 a0001c0002t0001g0215 a0001c0002t0001g0230 a0001c0002t0001g0244 a0001c0002t0001g0253 a0001c0002t0001g0262 a0001c0002t0001g0264 a0001c0002t0001g0276 a0001c0002t0002g0148 a0001c0002t0002g0150 a0001c0002t0002g0225 a0001c0002t0002g0235 a0001c0002t0002g0239 a0001c0002t0003g0272 a0001c0002t0004g0224 a0001c0003t0001g0044 a0001c0003t0001g0048 a0001c0003t0001g0066 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0092 a0001c0003t0001g0127 a0001c0003t0002g0050 a0001c0003t0002g0054 a0001c0003t0002g0075 a0001c0003t0002g0086 a0001c0003t0005g0143 a0001c0003t0005g0144 a0001c0004t0001g0069 a0001c0004t0001g0100 a0001c0004t0001g0103 a0001c0004t0001g0121 a0001c0004t0001g0130 a0001c0004t0002g0078 a0001c0004t0002g0097 a0001c0004t0003g0083 a0001c0004t0004g0042 a0001c0004t0006g0076 a0001c0005t0001g0191 a0001c0005t0001g0193 a0001c0005t0001g0233 a0001c0005t0001g0261 a0001c0005t0001g0273 a0001c0005t0001g0274 a0001c0005t0001g0299 a0001c0005t0002g0158 a0001c0005t0002g0207 a0001c0005t0003g0216 a0001c0005t0003g0254 a0001c0005t0004g0205 a0001c0005t0004g0219 a0001c0006t0001g0037 a0001c0006t0001g0067 a0001c0006t0001g0079 a0001c0006t0001g0082 a0001c0006t0001g0091 a0001c0006t0001g0115 a0001c0006t0001g0116 a0001c0006t0001g0122 a0001c0006t0001g0129 a0001c0006t0002g0035 a0001c0006t0002g0039 a0001c0006t0002g0096 a0001c0007t0001g0041 a0001c0007t0001g0051 a0001c0007t0001g0137 a0001c0007t0002g0093 a0001c0007t0002g0095 a0001c0007t0002g0105 a0001c0007t0002g0107 a0001c0007t0006g0068 a0001c0007t0006g0070 a0001c0009t0001g0155 a0001c0009t0001g0160 a0001c0009t0001g0208 a0001c0009t0001g0221 a0001c0009t0001g0227 a0001c0009t0001g0237 a0001c0009t0001g0245 a0001c0009t0001g0280 a0001c0009t0001g0282 a0001c0009t0002g0238 a0001c0010t0001g0223 a0001c0010t0001g0249 a0001c0010t0001g0287 a0001c0010t0005g0255 a0001c0011t0001g0198 a0001c0011t0001g0202 a0001c0011t0001g0218 a0001c0011t0001g0300 a0001c0011t0002g0167 a0001c0012t0001g0056 a0001c0012t0001g0102 a0001c0012t0002g0119 a0001c0012t0002g0124 a0001c0013t0001g0034 a0001c0013t0001g0080 a0001c0013t0001g0135 a0001c0013t0002g0064 a0001c0013t0004g0132 a0001c0036t0001g0110 a0001c0037t0002g0063 a0001c0038t0001g0138 a0001c0047t0002g0166 a0001c0054t0008g0165 a0001c0056t0001g0298 a0001c0059t0001g0308 a0001c0061t0001g0309 a0002c0008t0001g0018 a0002c0008t0001g0020 a0002c0008t0001g0022 a0002c0008t0001g0026 a0002c0008t0001g0029 a0002c0018t0001g0017 a0002c0018t0013g0031 a0002c0031t0001g0008 a0002c0032t0003g0009 a0002c0035t0007g0032 a0003c0015t0001g0313 a0003c0015t0001g0314 a0003c0015t0003g0318 a0003c0015t0003g0320 a0003c0015t0012g0319 a0003c0023t0001g0311 a0003c0023t0002g0310 a0003c0024t0002g0321 a0003c0062t0001g0312 a0003c0063t0001g0316 a0004c0014t0001g0060 a0004c0014t0001g0062 a0004c0014t0001g0077 a0004c0049t0014g0145 a0005c0026t0001g0331 a0005c0026t0015g0332 a0005c0027t0001g0330 a0005c0027t0001g0333 a0005c0069t0004g0334 a0005c0070t0001g0328 a0005c0071t0001g0329 a0006c0030t0001g0003 a0007c0025t0001g0325 a0007c0067t0001g0327 a0008c0022t0001g0157 a0009c0041t0001g0085 a0012c0055t0001g0153 a0014c0050t0004g0229 a0015c0040t0003g0101 a0017c0046t0001g0242 a0019c0033t0001g0028 a0020c0073t0001g0336 a0021c0072t0001g0335	187	336	0.5566	52	c.131 others(71): Show c.1310+1758_1310+1759insACCCCCAGCCAGATGGTTCTGGGTGG AGATGCTCCCTGAGAGTCTGGGGAGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	9/21			chr15	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(45): Show GTGTGTGTGTGTGTGTATATATATATATATATATATATATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	460	0.0022	52	c.153 others(71): Show c.1534+3085_1534+3086insTATATATATATATATATATATATATA TATATATATATACACACACACACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(45): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATAT ATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0304 a0001c0001t0017g0304	1	460	0.0022	52	c.153 others(71): Show c.1534+3085_1534+3086insTATATATATATATATACACACACACA CACACACACACACACACACACACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16			chr11	TogoVar
PCYOX1L_chr5_149353046_149374653	149370033	T T	TTTTTTTT others(45): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	372	0.0027	52	c.13 others(63): Show c.1379_*1380insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTC	PCYOX1L	ENSG00000145882.11	transcript	ENST00000274569.9	protein_coding		381		chr5	TogoVar
PDE11A_chr2_177618244_178077777	178044350	G G	GATATATA others(45): Show GATATATAAACTTTATATATATGTTTTTATATATATAAACTTTATGTTTA TAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03486.hp2 HG03098.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0010 a0002c0002 a0001c0010 a0002c0002	a0001c0010t0005 a0002c0002t0006 a0001c0010t0005 a0002c0002t0006	a0001c0010t0005g0035 a0002c0002t0006g0026 a0001c0010t0005g0035 a0002c0002t0006g0026	2	170	0.0118	52	c.912 others(71): Show c.912+27175_912+27176insATATAAACATAAAGTTTATATATATA AAAACATATATATAAAGTTTATATAT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	1/19			chr2	TogoVar
PDE5A_chr4_119489403_119633804	119632087	G G	GATATATA others(45): Show GATATATATATATATATATATATATATATATATATATATATATATATATA TAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0007 a0002c0003t0009g0007	1	336	0.0030	52	c.-34 others(63): Show c.-3417_-3416insATATATATATATATATATATATATATATATATAT ATATATATATATATATAT	PDE5A	ENSG00000138735.16	transcript	ENST00000354960.8	protein_coding		3284		chr4	TogoVar
PDGFB_chr22_39218359_39249982	39220457	A A	AGATGGAT others(45): Show AGATGGATGGATGGATGGATGGATGGATGGATGGATGGACAGGTGGATGG ATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 NA19030.hp1 HG03516.hp2 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0023 a0001c0003t0017 a0001c0003t0023	a0001c0003t0017g0043 a0001c0003t0023g0075 a0001c0003t0017g0043 a0001c0003t0023g0075	2	386	0.0052	52	c.48 others(63): Show c.4884_*4885insCATCCATCCACCTGTCCATCCATCCATCCATCCA TCCATCCATCCATCCATC	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2901		chr22	TogoVar
PDGFD_chr11_103902189_104169147	104119437	G G	GATATAAT others(45): Show GATATAATATATAATATATTGATATAATATATAATATATTGATATAATAT ATA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19065.hp1 NA18966.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0085 a0001c0002t0001g0084 a0001c0001t0002g0085 a0001c0002t0001g0084	2	200	0.0100	52	c.124 others(71): Show c.124+44366_124+44367insTATATATTATATCAATATATTATATA TTATATCAATATATTATATATTATAT	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDIA2_chr16_278164_292215	285931	C C	CCCCAACC others(45): Show CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACACCAACCCCGCGGT TCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG03486.hp1 HG01069.hp1 HG01071.hp1 HG03486.hp1	a0011 a0011	a0011c0020 a0011c0029 a0011c0020 a0011c0029	a0011c0020t0001 a0011c0029t0001 a0011c0020t0001 a0011c0029t0001	a0011c0020t0001g0025 a0011c0029t0001g0025 a0011c0020t0001g0025 a0011c0029t0001g0025	3	436	0.0069	52	c.111 others(69): Show c.1119+237_1119+238insGCGGTTCTCCCAACCCCAACCCCAACAC CAACCCCGCGGTTCTCCCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAGACAGA others(45): Show CAGACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03710.hp1 HG03831.hp1 HG01934.hp1 HG03710.hp1 HG03831.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0143 a0001c0005t0003g0144 a0001c0005t0003g0255 a0001c0005t0003g0143 a0001c0005t0003g0144 a0001c0005t0003g0255	3	342	0.0088	52	c.20- others(67): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTGTCTGTCTGTCTGTCTGTCT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT TTT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0069 a0001c0001t0004g0069	1	334	0.0030	52	c.313 others(69): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATATATATATTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT TTT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	334	0.0030	52	c.313 others(69): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDXK_chr21_43714129_43767299	43743424	C C	CGAGCACT others(45): Show CGAGCACTGTGGGGACACCTCACTTGCACCCACCTCCCTCCCCCCAGCCC CTG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0298 a0001c0001t0101g0298	1	358	0.0028	52	c.248 others(67): Show c.248-300_248-299insGAGCACTGTGGGGACACCTCACTTGCACCC ACCTCCCTCCCCCCAGCCCCTG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10			chr21	TogoVar
PDXK_chr21_43714129_43767299	43743497	T T	TTGCACCC others(45): Show TTGCACCCACCTCCCTCCCCCCCAGCCCCTGAGCACTGTGGGGACACCTC GCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0152 a0001c0001t0048g0152	1	358	0.0028	52	c.248 others(67): Show c.248-206_248-205insCAGCCCCTGAGCACTGTGGGGACACCTCGC CTGCACCCACCTCCCTCCCCCC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43743563	T T	TCCCCCCA others(45): Show TCCCCCCAGCCCCTGAGCACTGTGGGGACACCTCGCCTGCACCCACCTCC CTC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	358	0.0028	52	c.248 others(67): Show c.248-155_248-154insAGCCCCTGAGCACTGTGGGGACACCTCGCC TGCACCCACCTCCCTCCCCCCC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PEX5_chr12_7184686_7216459	7196589	C C	CATACATA others(45): Show CATACATAATGTAATAATTATATGTCATACATAATGTAATAATTATATGT CAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02738.hp2 HG01192.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0195 a0001c0001t0003g0196	2	428	0.0047	52	c.449 others(69): Show c.449-2421_449-2420insTACATAATGTAATAATTATATGTCATAC ATAATGTAATAATTATATGTCATA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PFKFB3_chr10_6197932_6240532	6206576	A A	AGGGGGTG others(45): Show AGGGGGTGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18522.hp2 HG02486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0057 a0001c0002t0010 a0001c0001t0057 a0001c0002t0010	a0001c0001t0057g0383 a0001c0002t0010g0384 a0001c0001t0057g0383 a0001c0002t0010g0384	2	432	0.0046	52	c.76+ others(67): Show c.76+3244_76+3245insGTGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGG	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKL_chr21_44295053_44332373	44306059	T T	TGCTTTCC others(45): Show TGCTTTCCTCAGTACCCAGAGGTGCTCCCCGGCTTCTCCATCCCCGCGCC GCA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	392	0.0026	52	c.86- others(65): Show c.86-610_86-609insACCCAGAGGTGCTCCCCGGCTTCTCCATCCCC GCGCCGCAGCTTTCCTCAGT	PFKL	ENSG00000141959.17	transcript	ENST00000349048.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr21	TogoVar
PFKL_chr21_44295053_44332373	44306059	T T	TGCTTTCC others(45): Show TGCTTTCCTCAGTGCCCAGAGGTACTCCCCGGCTTCTCCATCCCCGCGCC GCA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	392	0.0026	52	c.86- others(65): Show c.86-600_86-599insACTCCCCGGCTTCTCCATCCCCGCGCCGCAGC TTTCCTCAGTGCCCAGAGGT	PFKL	ENSG00000141959.17	transcript	ENST00000349048.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr21	TogoVar
PFKL_chr21_44295053_44332373	44306059	T T	TGCTTTCC others(45): Show TGCTTTCCTCAGTGCCCAGAGGTGCTCCCCGGCTTCTCCATCCCCGCGCC GCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00733.hp2 others(79): Show HG00099.hp2 HG00544.hp1 HG00733.hp2 HG01070.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01975.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 NA18612.hp1 NA18942.hp2 NA18944.hp1 NA18947.hp2 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18989.hp2 NA19012.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19077.hp2 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0004t0001 a0002c0003t0005 a0005c0009t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(69): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0087 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0291 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0059 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0081 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0150 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0185 a0001c0001t0005g0117 a0001c0001t0005g0118 a0001c0001t0005g0121 a0001c0001t0005g0173 a0001c0001t0006g0024 a0001c0001t0006g0070 a0001c0001t0006g0071 a0001c0001t0006g0072 a0001c0001t0006g0073 a0001c0004t0001g0032 a0002c0003t0005g0063 a0002c0003t0005g0064 a0005c0009t0001g0124	82	392	0.2092	52	c.86- others(65): Show c.86-578_86-577insGCGCCGCAGCTTTCCTCAGTGCCCAGAGGTGC TCCCCGGCTTCTCCATCCCC	PFKL	ENSG00000141959.17	transcript	ENST00000349048.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr21	TogoVar
PFKL_chr21_44295053_44332373	44306106	G G	GCCGCAGC others(45): Show GCCGCAGCTTTCCTCAGTGCCCAGAGGTGCTCCCCGGCTTCTCCATCCCC GCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(72): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01516.hp1 HG01975.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02258.hp1 HG02523.hp2 HG02622.hp2 HG02738.hp2 HG02970.hp2 HG03098.hp2 HG03139.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03669.hp1 HG03669.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 NA18941.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp2 NA18995.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19060.hp2 NA19067.hp2 NA19077.hp1 NA19079.hp2 NA19088.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(63): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0044 a0001c0001t0001g0075 a0001c0001t0001g0107 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0307 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0047 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0122 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0288 a0001c0001t0004g0023 a0001c0004t0001g0032	75	392	0.1913	52	c.86- others(65): Show c.86-568_86-567insTTTCCTCAGTGCCCAGAGGTGCTCCCCGGCTT CTCCATCCCCGCCCCGCAGC	PFKL	ENSG00000141959.17	transcript	ENST00000349048.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr21	TogoVar
PGBD5_chr1_230309490_230431332	230395718	T T	TCTCCTCA others(45): Show TCTCCTCACACTCCTCCCCATCCCTGAGCTCCTCACTCCCACCCTCCTCC CCC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0114 a0001c0001t0013g0114	1	288	0.0035	52	c.331 others(71): Show c.331+29828_331+29879dupGGGGGAGGAGGGTGGGAGTGAGGAGC TCAGGGATGGGGAGGAGTGTGAGGAG	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/6			chr1	TogoVar
PGC_chr6_41731711_41752397	41738205	T T	TATATATA others(45): Show TATATATATACATATATATGCATATATATGCATATATATATACATATATA TAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	464	0.0022	52	c.916 others(67): Show c.916-378_916-377insGTATATATATGTATATATATATGCATATAT ATGCATATATATGTATATATAT	PGC	ENSG00000096088.16	transcript	ENST00000373025.7	protein_coding	7/8			chr6	TogoVar
PGC_chr6_41731711_41752397	41738205	T T	TATATATA others(45): Show TATATATATGCATATATATATACATATATATGCATATATATACATATATA TAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	464	0.0022	52	c.916 others(67): Show c.916-378_916-377insGTATATATATGTATATATATGCATATATAT GTATATATATATGCATATATAT	PGC	ENSG00000096088.16	transcript	ENST00000373025.7	protein_coding	7/8			chr6	TogoVar
PGPEP1_chr19_18335598_18374950	18364083	G G	GCTGGCTT others(45): Show GCTGGCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGC TTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0278 a0001c0001t0278	a0001c0001t0278g0332 a0001c0001t0278g0332	1	412	0.0024	52	c.50 others(61): Show c.502_*503insGGCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTGCTTTCT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	503	INFO_REALIGN_3_PRIME	chr19	TogoVar
PGPEP1_chr19_18335598_18374950	18364083	G G	GCTGGCTT others(45): Show GCTGGCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG02083.hp2 HG02976.hp1 HG01109.hp1 HG02083.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0161 a0001c0001t0162 a0001c0001t0300 a0001c0001t0161 a0001c0001t0162 a0001c0001t0300	a0001c0001t0161g0027 a0001c0001t0162g0289 a0001c0001t0300g0008 a0001c0001t0161g0027 a0001c0001t0162g0289 a0001c0001t0300g0008	3	412	0.0073	52	c.50 others(61): Show c.502_*503insGGCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	503	INFO_REALIGN_3_PRIME	chr19	TogoVar
PGPEP1_chr19_18335598_18374950	18364103	T T	TCTTTCTT others(45): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTC TTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0309 a0001c0001t0309	a0001c0001t0309g0336 a0001c0001t0309g0336	1	412	0.0024	52	c.53 others(61): Show c.531_*532insTCTTTCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTT TCTTGCTTTCTTTCTT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	532	INFO_REALIGN_3_PRIME	chr19	TogoVar
PGPEP1_chr19_18335598_18374950	18364103	T T	TCTTTCTT others(45): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTTC TTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp2 HG03471.hp1 NA18906.hp2 HG02559.hp2 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0148 a0001c0001t0149 a0001c0001t0244 a0001c0001t0148 a0001c0001t0149 a0001c0001t0244	a0001c0001t0148g0023 a0001c0001t0149g0023 a0001c0001t0244g0173 a0001c0001t0148g0023 a0001c0001t0149g0023 a0001c0001t0244g0173	3	412	0.0073	52	c.53 others(61): Show c.531_*532insTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTT TCTTGCTTTCTTTCTT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	532	INFO_REALIGN_3_PRIME	chr19	TogoVar
PHACTR2_chr6_143672965_143836185	143771208	A A	ATATATGT others(45): Show ATATATGTATATATATATATATATATATGTATATATATATATATATATAT ATG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0108 a0001c0003t0108	a0001c0003t0108g0248 a0001c0003t0108g0248	1	310	0.0032	52	c.123 others(71): Show c.1233-1045_1233-1044insGTATATATATATATATATATATGTAT ATATATATATATATATATATGTATAT	PHACTR2	ENSG00000112419.15	transcript	ENST00000440869.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHC2_chr1_33318626_33436095	33356275	A A	ATATATAT others(45): Show ATATATATATATATATATATATGTATATATATATATATATATATATATAT ACG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0071 a0002c0004t0004g0071	1	370	0.0027	52	c.977 others(69): Show c.977-1023_977-1022insCGTATATATATATATATATATATATATA TACATATATATATATATATATATA	PHC2	ENSG00000134686.21	transcript	ENST00000683057.1	protein_coding	7/14			chr1	TogoVar
PHF11_chr13_49490953_49533976	49508160	A A	ATATGTAT others(45): Show ATATGTATTAATATATTATTAATGCAGTATGTATTAATATATTATTAATG CAG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	414	0.0024	52	c.216 others(69): Show c.216+1453_216+1454insCAGTATGTATTAATATATTATTAATGCA GTATGTATTAATATATTATTAATG	PHF11	ENSG00000136147.18	transcript	ENST00000378319.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
PHF14_chr7_10968872_11174618	11117582	T T	TAAATATG others(45): Show TAAATATGTATTTATATGTATAAATACAAATATGTATTTATATGTATAAA TAC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02486.hp2 HG02615.hp2 others(3): Show HG02040.hp2 HG02486.hp2 HG02615.hp2 HG03195.hp1 HG03486.hp1 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 others(3): Show a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0002t0001g0056 a0001c0002t0001g0099	6	298	0.0201	52	c.277 others(71): Show c.2772+6153_2772+6154insATATGTATAAATACAAATATGTATTT ATATGTATAAATACAAATATGTATTT	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PI4K2A_chr10_97635671_97681434	97678880	G G	GGTGTGTG others(45): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	350	0.0029	52	c.51 others(63): Show c.5138_*5139insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2447		chr10	TogoVar
PIAS2_chr18_46798218_46922507	46862708	T T	TATATGTG others(45): Show TATATGTGTGTGTGTATATATATGTGTGTATATATATGTGTGTATATATA CAC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0177 a0001c0001t0177	a0001c0001t0177g0039 a0001c0001t0177g0039	1	322	0.0031	52	c.584 others(69): Show c.584+1455_584+1456insGTGTATATATACACACATATATATACAC ACATATATATACACACACACATAT	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding	3/13			chr18	TogoVar
PIAS4_chr19_4002736_4044386	4035984	A A	ACACATCT others(45): Show ACACATCTATACAGTCCACACCATCACACACACATCCATACAGTCCACAC CAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp2 HG01168.hp1 others(24): Show HG00741.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG02148.hp2 HG02300.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG04184.hp2 NA18983.hp1 NA19087.hp2 NA19089.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0007 others(1): Show a0001c0002 a0001c0003 a0001c0007 a0002c0010	a0001c0002t0002 a0001c0003t0002 a0001c0007t0002 others(1): Show a0001c0002t0002 a0001c0003t0002 a0001c0007t0002 a0002c0010t0002	a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0151 others(21): Show a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0151 a0001c0003t0002g0020 a0001c0003t0002g0021 a0001c0003t0002g0266 a0001c0003t0002g0267 a0001c0003t0002g0268 a0001c0003t0002g0269 a0001c0003t0002g0270 a0001c0003t0002g0271 a0001c0003t0002g0272 a0001c0003t0002g0273 a0001c0003t0002g0275 a0001c0003t0002g0276 a0001c0003t0002g0282 a0001c0003t0002g0283 a0001c0003t0002g0287 a0001c0007t0002g0022 a0001c0007t0002g0284 a0001c0007t0002g0285 a0001c0007t0002g0286 a0002c0010t0002g0280 a0002c0010t0002g0281	27	334	0.0808	52	c.114 others(71): Show c.1143-1386_1143-1385insTCTATACAGTCCACACCATCACACAC ACATCCATACAGTCCACACCATCACA	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4036224	A A	ACACACAT others(45): Show ACACACATCCGTACAGCCCACACATCACACACACATCCGTACAGTCCACA CAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(78): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01081.hp2 HG01106.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG03209.hp1 HG03239.hp2 HG03490.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 NA18942.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA19007.hp2 NA19059.hp1 NA19060.hp2 NA19079.hp1 NA19084.hp1 NA19089.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0016	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0002t0010 a0001c0002t0018 a0001c0009t0001 a0001c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(71): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0265 a0001c0001t0009g0093 a0001c0001t0009g0095 a0001c0001t0010g0140 a0001c0001t0013g0052 a0001c0001t0014g0135 a0001c0001t0016g0023 a0001c0002t0001g0044 a0001c0002t0010g0105 a0001c0002t0018g0138 a0001c0009t0001g0010 a0001c0009t0001g0072 a0001c0009t0001g0073 a0001c0009t0001g0074 a0001c0016t0001g0125	81	334	0.2425	52	c.114 others(71): Show c.1143-1144_1143-1143insTCCGTACAGCCCACACATCACACACA CATCCGTACAGTCCACACATCACACA	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr19	TogoVar

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