Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
PDIA6_chr2_10778391_10817785	10806628	C C	CAGACAGA others(41): Show CAGACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03490.hp2 HG03654.hp1 others(1): Show HG03239.hp1 HG03490.hp2 HG03654.hp1 NA19005.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0016 a0001c0005t0003 a0001c0003t0016 a0001c0005t0003	a0001c0003t0016g0297 a0001c0005t0003g0141 a0001c0005t0003g0142 others(1): Show a0001c0003t0016g0297 a0001c0005t0003g0141 a0001c0005t0003g0142 a0001c0005t0003g0150	4	342	0.0117	48	c.20- others(63): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTCTTTCTGT CTGTCTGTCTGTCTGTCT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAGACAGA others(41): Show CAGACAGACAGACAGACAGACAGACAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0139 a0001c0005t0003g0139	1	342	0.0029	48	c.20- others(63): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTCTGTCTGT CTGTCTGTCTGTCTGTCT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDS5A_chr4_39817863_39982911	39842909	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	356	0.0028	48	c.354 others(65): Show c.3549-854_3549-853insTATATATATATATATATATATATATATA TATATATATATATATATATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	30/32			chr4	TogoVar
PDXK_chr21_43714129_43767299	43741326	C C	CGGGGGGG others(41): Show CGGGGGGGCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGGCTCGCG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0219 a0001c0001t0004g0219	1	358	0.0028	48	c.143 others(63): Show c.143-335_143-334insGCTGGCGGGGGGCTGGCGGGGGGGCTCGCG GGGGGGCTCGCGGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD2_chr5_31634131_32115932	31689330	C C	CATATGCA others(41): Show CATATGCATATATATATATATACATATGCATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0049 a0004c0029t0049	a0004c0029t0049g0001 a0004c0029t0049g0001	1	216	0.0046	48	c.-36 others(69): Show c.-361+49897_-361+49898insGCATATATATATATATACATATGC ATATATATATATATATATATATAT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ACATATGC others(41): Show ACATATGCATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0184 a0001c0001t0017g0184	1	216	0.0046	48	c.-36 others(69): Show c.-361+49916_-361+49917insCATATGCATATATATATATATATA TATATATATATATATATATATATT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24			chr5	TogoVar
PDZD2_chr5_31634131_32115932	31850261	C C	CATATATA others(41): Show CATATATATACTTATCATCTAGTTAATATATATATATATTTATATATCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp1 HG01071.hp2 others(5): Show HG00280.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01175.hp2 HG03669.hp2 HG03927.hp1 NA18964.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0022 a0002c0003 others(1): Show a0001c0001 a0001c0022 a0002c0003 a0014c0021	a0001c0001t0001 a0001c0001t0035 a0001c0022t0001 others(2): Show a0001c0001t0001 a0001c0001t0035 a0001c0022t0001 a0002c0003t0002 a0014c0021t0003	a0001c0001t0001g0097 a0001c0001t0001g0151 a0001c0001t0001g0152 others(5): Show a0001c0001t0001g0097 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0035g0102 a0001c0022t0001g0087 a0002c0003t0002g0042 a0002c0003t0002g0150 a0014c0021t0003g0012	8	216	0.0370	48	c.476 others(67): Show c.476+50563_476+50564insATATATATATATTTATATATCTATAT ATATACTTATCATCTAGTTAAT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PEBP4_chr8_22708251_22932914	22878210	T T	TGGAGAGG others(41): Show TGGAGAGGGAGGGGGAGAGGGAGGGGGAGAGGGAGGGGGAGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0006 a0001c0005t0005g0006	1	278	0.0036	48	c.258 others(67): Show c.258+41973_258+41974insCCCTCCCTCTCCCCCTCCCTCTCCCC CTCCCTCTCCCCCTCCCTCTCC	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	3/6			chr8	TogoVar
PECAM1_chr17_64314415_64395860	64377617	A A	AAAGGAAG others(41): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01255.hp2 HG02572.hp1 others(7): Show HG01168.hp2 HG01255.hp2 HG02572.hp1 HG03710.hp2 NA18942.hp2 NA18966.hp1 NA18966.hp2 NA19003.hp1 NA19005.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0019 a0001c0001 a0003c0019	a0001c0001t0001 a0003c0019t0003 a0001c0001t0001 a0003c0019t0003	a0001c0001t0001g0034 a0001c0001t0001g0184 a0001c0001t0001g0185 others(7): Show a0001c0001t0001g0034 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0254 a0001c0001t0001g0255 a0003c0019t0003g0095	10	288	0.0347	48	c.385 others(63): Show c.385+206_385+207insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTT	PECAM1	ENSG00000261371.6	transcript	ENST00000563924.6	protein_coding	3/15			chr17	TogoVar
PERCC1_chr16_1426078_1439441	1429071	C C	CCTGGGCT others(41): Show CCTGGGCTGTGGGCTCCCTGGGCTATGGGGTCACCTGGCTGTGGGGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(295): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0014	a0001c0001 a0001c0007 a0002c0002 others(13): Show a0001c0001 a0001c0007 a0002c0002 a0002c0011 a0002c0019 a0003c0004 a0004c0005 a0005c0006 a0006c0008 a0007c0009 a0008c0010 a0010c0016 a0011c0017 a0012c0018 a0013c0013 a0014c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0007t0029 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0011 a0002c0002t0018 a0002c0002t0019 a0002c0002t0020 a0002c0002t0027 a0002c0002t0030 a0002c0002t0051 a0002c0011t0001 a0002c0019t0001 a0003c0004t0002 a0004c0005t0001 a0004c0005t0004 a0004c0005t0013 a0005c0006t0003 a0005c0006t0017 a0006c0008t0001 a0006c0008t0049 a0007c0009t0005 a0007c0009t0006 a0008c0010t0001 a0008c0010t0013 a0010c0016t0040 a0011c0017t0010 a0012c0018t0001 a0013c0013t0001 a0014c0012t0001	a0001c0001t0001g0006 a0001c0001t0002g0038 a0001c0001t0003g0002 others(73): Show a0001c0001t0001g0006 a0001c0001t0002g0038 a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0004g0002 a0001c0001t0004g0006 a0001c0001t0005g0002 a0001c0001t0005g0013 a0001c0001t0005g0018 a0001c0001t0005g0034 a0001c0001t0006g0002 a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0029 a0001c0001t0008g0002 a0001c0001t0010g0002 a0001c0001t0010g0014 a0001c0001t0012g0002 a0001c0001t0012g0006 a0001c0001t0015g0002 a0001c0001t0016g0002 a0001c0001t0017g0014 a0001c0001t0017g0033 a0001c0001t0023g0002 a0001c0001t0024g0018 a0001c0001t0024g0028 a0001c0001t0025g0002 a0001c0001t0026g0002 a0001c0001t0028g0002 a0001c0001t0042g0002 a0001c0001t0043g0002 a0001c0001t0044g0002 a0001c0001t0045g0002 a0001c0001t0048g0002 a0001c0001t0050g0005 a0001c0001t0052g0002 a0001c0001t0053g0002 a0001c0007t0029g0006 a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0012 a0002c0002t0001g0017 a0002c0002t0001g0030 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0002g0011 a0002c0002t0004g0002 a0002c0002t0006g0001 a0002c0002t0011g0001 a0002c0002t0018g0011 a0002c0002t0019g0001 a0002c0002t0020g0001 a0002c0002t0027g0001 a0002c0002t0030g0001 a0002c0002t0051g0001 a0002c0011t0001g0001 a0002c0019t0001g0018 a0003c0004t0002g0013 a0004c0005t0001g0001 a0004c0005t0004g0002 a0004c0005t0013g0001 a0005c0006t0003g0006 a0005c0006t0017g0014 a0006c0008t0001g0001 a0006c0008t0001g0036 a0006c0008t0049g0001 a0007c0009t0005g0006 a0007c0009t0006g0006 a0008c0010t0001g0001 a0008c0010t0013g0001 a0010c0016t0040g0017 a0011c0017t0010g0002 a0012c0018t0001g0001 a0013c0013t0001g0001 a0014c0012t0001g0040	298	378	0.7884	48	c.-20 others(59): Show c.-2085_-2084insCTGGGCTGTGGGCTCCCTGGGCTATGGGGTCACC TGGCTGTGGGGTCA	PERCC1	ENSG00000284395.2	transcript	ENST00000640283.2	protein_coding		2006		chr16	TogoVar
PEX2_chr8_76975258_77005078	76996967	G G	GTAGAATG others(41): Show GTAGAATGGAATTTATGCTAAGCTCATCAAAATTTAGATCATCAGAACT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0083 a0001c0002t0005g0083	1	412	0.0024	48	c.-16 others(67): Show c.-160+3022_-160+3023insAGTTCTGATGATCTAAATTTTGATGA GCTTAGCATAAATTCCATTCTA	PEX2	ENSG00000164751.15	transcript	ENST00000357039.9	protein_coding	1/3			chr8	TogoVar
PEX5_chr12_7184686_7216459	7196999	A A	ATAATTAT others(41): Show ATAATTATATATGTCACATATAATGTAATTATATATGTCACATATAATG	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19010.hp2 HG02027.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0289 a0001c0001t0002g0245 a0001c0001t0002g0289	2	428	0.0047	48	c.449 others(65): Show c.449-1948_449-1901dupCATATAATGTAATTATATATGTCACATA TAATGTAATTATATATGTCA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197144	A A	ATAATTAT others(41): Show ATAATTATATATGTCATATATAATGTAATTATATATGTCATATATAATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00544.hp1 others(64): Show HG00280.hp2 HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01346.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01943.hp1 HG01952.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02080.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02523.hp1 HG02572.hp1 HG02630.hp2 HG03130.hp1 HG03540.hp1 HG03927.hp1 NA18612.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp2 NA18948.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19063.hp2 NA19064.hp1 NA19067.hp2 NA19070.hp1 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA20905.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0011 a0001c0001 a0009c0011	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0016 a0009c0011t0002	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0012 others(45): Show a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0227 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0238 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0304 a0001c0001t0004g0038 a0001c0001t0006g0014 a0001c0001t0006g0023 a0001c0001t0006g0058 a0001c0001t0006g0060 a0001c0001t0016g0012 a0009c0011t0002g0002	67	428	0.1565	48	c.449 others(65): Show c.449-1824_449-1777dupATAATGTAATTATATATGTCATATATAA TGTAATTATATATGTCATAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197257	A A	AATAATTA others(41): Show AATAATTATATATGTCATATATAATGTAATAATTATATATGTCATATAC	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	428	0.0023	48	c.449 others(65): Show c.449-1707_449-1706insCATAATTATATATGTCATATATAATGTA ATAATTATATATGTCATATA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197264	A A	ATGTCATA others(41): Show ATGTCATATATAATGTAATAATTATATATGTCATATATAATGTAATAAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01070.hp2 HG01346.hp2 others(4): Show HG00621.hp2 HG01070.hp2 HG01346.hp2 HG03453.hp1 HG03654.hp2 HG03831.hp2 HG03942.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0005 a0002c0002t0005 a0004c0004t0005 a0001c0001t0005 a0002c0002t0005 a0004c0004t0005	a0001c0001t0005g0205 a0001c0001t0005g0208 a0002c0002t0005g0313 others(4): Show a0001c0001t0005g0205 a0001c0001t0005g0208 a0002c0002t0005g0313 a0002c0002t0005g0314 a0002c0002t0005g0318 a0002c0002t0005g0322 a0004c0004t0005g0311	7	428	0.0164	48	c.449 others(65): Show c.449-1746_449-1745insGTCATATATAATGTAATAATTATATATG TCATATATAATGTAATAATT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197264	A A	ATGTCATA others(41): Show ATGTCATATATAATGTAATAATTATGTATGTCATATATAATGTAATAAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0206 a0001c0001t0005g0206	1	428	0.0023	48	c.449 others(65): Show c.449-1746_449-1745insGTCATATATAATGTAATAATTATGTATG TCATATATAATGTAATAATT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197366	T T	TATATATG others(41): Show TATATATGTCATATACGATGTAATAATTATATATGTCATATACAATGTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02647.hp1 HG03453.hp2 others(1): Show HG01243.hp1 HG02647.hp1 HG03453.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 others(1): Show a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223	4	428	0.0094	48	c.449 others(65): Show c.449-1630_449-1629insGATGTAATAATTATATATGTCATATACA ATGTAATATATGTCATATAC	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PFKP_chr10_3062548_3141802	3062574	C C	CTCATTCA others(41): Show CTCATTCATTCATTCACTCACTCACTCATTCACTCACTCATTCACCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02717.hp2 HG02970.hp1 others(2): Show HG02451.hp1 HG02717.hp2 HG02970.hp1 HG03471.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0008 a0001c0017 others(2): Show a0001c0004 a0001c0008 a0001c0017 a0001c0026 a0001c0045	a0001c0004t0004 a0001c0008t0005 a0001c0017t0011 others(2): Show a0001c0004t0004 a0001c0008t0005 a0001c0017t0011 a0001c0026t0001 a0001c0045t0003	a0001c0004t0004g0359 a0001c0008t0005g0401 a0001c0017t0011g0360 others(2): Show a0001c0004t0004g0359 a0001c0008t0005g0401 a0001c0017t0011g0360 a0001c0026t0001g0400 a0001c0045t0003g0364	5	402	0.0124	48	c.-50 others(59): Show c.-5022_-5021insTCATTCATTCATTCACTCACTCACTCATTCACTC ACTCATTCACCTCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding		4973		chr10	TogoVar
PFKP_chr10_3062548_3141802	3084693	C C	CAGTCCTC others(41): Show CAGTCCTCCAGCCCCTCCCCAGCACAGTCCTCCAGCCCCTCCCCAGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG02559.hp1 others(5): Show HG00099.hp1 HG00099.hp2 HG02559.hp1 HG02602.hp2 HG03654.hp1 HG03710.hp2 HG04199.hp1 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0001c0007 others(1): Show a0001c0002 a0001c0005 a0001c0007 a0002c0013	a0001c0002t0004 a0001c0005t0002 a0001c0005t0007 others(2): Show a0001c0002t0004 a0001c0005t0002 a0001c0005t0007 a0001c0007t0005 a0002c0013t0004	a0001c0002t0004g0102 a0001c0002t0004g0184 a0001c0005t0002g0004 others(5): Show a0001c0002t0004g0102 a0001c0002t0004g0184 a0001c0005t0002g0004 a0001c0005t0002g0330 a0001c0005t0007g0032 a0001c0007t0005g0031 a0002c0013t0004g0005 a0002c0013t0004g0026	8	402	0.0199	48	c.186 others(65): Show c.186+2253_186+2254insCACAGTCCTCCAGCCCCTCCCCAGGAGA GTCCTCCAGCCCCTCCCCAG	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3084693	C C	CAGTCCTC others(41): Show CAGTCCTCCAGCCCCTCCCCAGGAGAGTCCTCCAGCCCCTCCCCAGGAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00544.hp1 others(39): Show HG00280.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01891.hp2 HG02074.hp2 HG02165.hp2 HG02523.hp1 HG02572.hp1 HG02738.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 NA18522.hp1 NA18940.hp1 NA18941.hp2 NA18952.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18988.hp2 NA18993.hp1 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19067.hp1 NA20805.hp2 NA20905.hp2	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0010	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0014 a0001c0016 a0001c0024 a0001c0034 a0001c0053 a0001c0062 a0003c0030 a0008c0051 a0010c0048	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 others(25): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0004t0006 a0001c0004t0008 a0001c0005t0002 a0001c0005t0006 a0001c0005t0010 a0001c0006t0001 a0001c0006t0021 a0001c0007t0005 a0001c0008t0005 a0001c0009t0001 a0001c0010t0001 a0001c0011t0003 a0001c0014t0002 a0001c0014t0004 a0001c0016t0007 a0001c0024t0001 a0001c0034t0005 a0001c0053t0001 a0001c0062t0001 a0003c0030t0003 a0008c0051t0004 a0010c0048t0015	a0001c0001t0002g0022 a0001c0001t0002g0052 a0001c0001t0003g0166 others(39): Show a0001c0001t0002g0022 a0001c0001t0002g0052 a0001c0001t0003g0166 a0001c0002t0002g0047 a0001c0002t0002g0056 a0001c0002t0002g0059 a0001c0002t0002g0068 a0001c0002t0002g0094 a0001c0002t0003g0314 a0001c0002t0004g0264 a0001c0002t0004g0283 a0001c0002t0004g0318 a0001c0003t0001g0067 a0001c0003t0001g0134 a0001c0003t0001g0145 a0001c0004t0006g0049 a0001c0004t0008g0328 a0001c0005t0002g0282 a0001c0005t0006g0053 a0001c0005t0010g0192 a0001c0006t0001g0048 a0001c0006t0001g0095 a0001c0006t0001g0115 a0001c0006t0001g0291 a0001c0006t0021g0144 a0001c0007t0005g0292 a0001c0008t0005g0113 a0001c0009t0001g0096 a0001c0009t0001g0258 a0001c0010t0001g0355 a0001c0010t0001g0358 a0001c0011t0003g0058 a0001c0014t0002g0272 a0001c0014t0004g0273 a0001c0016t0007g0057 a0001c0024t0001g0356 a0001c0034t0005g0397 a0001c0053t0001g0141 a0001c0062t0001g0176 a0003c0030t0003g0039 a0008c0051t0004g0110 a0010c0048t0015g0354	42	402	0.1045	48	c.186 others(65): Show c.186+2266_186+2313dupGCCCCTCCCCAGGAGAGTCCTCCAGCCC CTCCCCAGGAGAGTCCTCCA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3084751	G G	GCCCCTCC others(41): Show GCCCCTCCCCAGGAGAGTCCTCCACCCCCTCCCCAGGAGAGTCCTCCAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01981.hp1 HG01433.hp2 HG01981.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0061 a0001c0001 a0005c0061	a0001c0001t0003 a0005c0061t0003 a0001c0001t0003 a0005c0061t0003	a0001c0001t0003g0315 a0005c0061t0003g0288 a0001c0001t0003g0315 a0005c0061t0003g0288	2	402	0.0050	48	c.186 others(65): Show c.186+2337_186+2338insCCCCCTCCCCAGGAGAGTCCTCCACCCC CTCCCCAGGAGAGTCCTCCA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3084751	G G	GCCCCTCC others(41): Show GCCCCTCCCCAGGAGAGTCCTCCAGCCCCTCCCCAGGAGAGTCCTCCAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp1 HG00621.hp2 others(26): Show HG00323.hp1 HG00621.hp1 HG00621.hp2 HG01081.hp1 HG01358.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG02004.hp2 HG02027.hp1 HG02083.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02293.hp2 HG02922.hp1 HG03942.hp2 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp2 NA18959.hp1 NA18995.hp2 NA19043.hp1 NA19063.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0001c0021 a0001c0044	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0002 a0001c0002t0006 a0001c0002t0010 a0001c0003t0001 a0001c0003t0012 a0001c0004t0006 a0001c0004t0008 a0001c0005t0003 a0001c0005t0006 a0001c0006t0001 a0001c0006t0012 a0001c0009t0001 a0001c0011t0006 a0001c0021t0016 a0001c0044t0009	a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0003g0055 others(26): Show a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0003g0055 a0001c0001t0003g0131 a0001c0001t0003g0261 a0001c0001t0006g0126 a0001c0001t0006g0279 a0001c0002t0002g0182 a0001c0002t0002g0289 a0001c0002t0006g0128 a0001c0002t0010g0023 a0001c0003t0001g0038 a0001c0003t0001g0063 a0001c0003t0001g0097 a0001c0003t0001g0132 a0001c0003t0001g0158 a0001c0003t0012g0287 a0001c0004t0006g0064 a0001c0004t0008g0098 a0001c0005t0003g0186 a0001c0005t0006g0285 a0001c0006t0001g0121 a0001c0006t0001g0218 a0001c0006t0012g0118 a0001c0009t0001g0054 a0001c0009t0001g0125 a0001c0011t0006g0188 a0001c0021t0016g0120 a0001c0044t0009g0181	29	402	0.0721	48	c.186 others(65): Show c.186+2313_186+2314insGCCCCTCCCCAGGAGAGTCCTCCACCCC CTCCCCAGGAGAGTCCTCCA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085115	C C	CCCTCCCC others(41): Show CCCTCCCCAGCACAGTCCGCCACTCCACTCTCCAGCACAGTCCCCCACT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02027.hp2 HG02083.hp2 others(6): Show HG02015.hp2 HG02027.hp2 HG02083.hp2 HG02145.hp2 HG02922.hp1 NA18966.hp1 NA18967.hp1 NA19000.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0044	a0001c0001t0002 a0001c0001t0008 a0001c0002t0002 others(4): Show a0001c0001t0002 a0001c0001t0008 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0005t0003 a0001c0044t0009	a0001c0001t0002g0348 a0001c0001t0008g0343 a0001c0002t0002g0347 others(6): Show a0001c0001t0002g0348 a0001c0001t0008g0343 a0001c0002t0002g0347 a0001c0002t0002g0349 a0001c0002t0004g0344 a0001c0002t0006g0351 a0001c0005t0003g0116 a0001c0005t0003g0186 a0001c0044t0009g0181	9	402	0.0224	48	c.186 others(65): Show c.186+2655_186+2656insCTCCCCAGCACAGTCCGCCACTCCACTC TCCAGCACAGTCCCCCACTC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085121	T T	TCCAGCAC others(41): Show TCCAGCACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACTCCCTCC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01928.hp1 HG01975.hp2 others(7): Show HG01257.hp2 HG01928.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02071.hp1 HG02148.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0003g0260 a0001c0001t0003g0286 a0001c0001t0003g0295 others(7): Show a0001c0001t0003g0260 a0001c0001t0003g0286 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0315 a0001c0001t0003g0317 a0001c0001t0003g0319 a0001c0001t0003g0341 a0001c0003t0001g0268 a0001c0003t0001g0316	10	402	0.0249	48	c.186 others(65): Show c.186+2704_186+2705insCTCCCCAGCACAGTCCCCCACTCCCTCC CCAGCACAGTCCCCCACTCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085163	T T	TCCCTCCC others(41): Show TCCCTCCCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCTCAC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0345 a0001c0002t0002g0345	1	402	0.0025	48	c.186 others(65): Show c.186+2704_186+2705insCTCCCCAGCACAGTCCCCCACTCCACTC TCCAGCACAGTCCCTCACCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085308	C C	CCCCCTCC others(41): Show CCCCCTCCCCAGCACAGTCCCCCACCCCCCTCCCCAGCACAGTCCCCCA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0018 a0001c0011t0018	a0001c0011t0018g0161 a0001c0011t0018g0161	1	402	0.0025	48	c.186 others(65): Show c.186+2847_186+2848insCCCCTCCCCAGCACAGTCCCCCACCCCC CTCCCCAGCACAGTCCCCCA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21			chr10	TogoVar
PFKP_chr10_3062548_3141802	3085391	T T	TCCAGCAC others(41): Show TCCAGCACAGTCCCTCACCCGCTCACCAGCACAGTCCCTCACCCCCTCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03195.hp2 HG02559.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0017 a0001c0004 a0001c0017	a0001c0004t0004 a0001c0017t0011 a0001c0004t0004 a0001c0017t0011	a0001c0004t0004g0015 a0001c0017t0011g0003 a0001c0004t0004g0015 a0001c0017t0011g0003	2	402	0.0050	48	c.186 others(65): Show c.186+2943_186+2944insTCACCCGCTCACCAGCACAGTCCCTCAC CCCCTCCCCAGCACAGTCCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085512	T T	TCCAGCAC others(41): Show TCCAGCACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACTCCCTCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02004.hp1 HG02300.hp1 others(4): Show HG01175.hp2 HG02004.hp1 HG02300.hp1 NA18951.hp2 NA19058.hp2 NA19065.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009	a0001c0001t0006 a0001c0003t0001 a0001c0004t0003 others(3): Show a0001c0001t0006 a0001c0003t0001 a0001c0004t0003 a0001c0004t0008 a0001c0009t0007 a0001c0009t0014	a0001c0001t0006g0089 a0001c0003t0001g0088 a0001c0003t0001g0092 others(4): Show a0001c0001t0006g0089 a0001c0003t0001g0088 a0001c0003t0001g0092 a0001c0004t0003g0090 a0001c0004t0008g0087 a0001c0009t0007g0081 a0001c0009t0014g0086	7	402	0.0174	48	c.186 others(65): Show c.186+3069_186+3116dupTCCCTCCCCAGCACAGTCCCCCACTCCC TCCCCAGCACAGTCCCCCAC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085557	C C	CTCCCCAG others(41): Show CTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCT	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA18940.hp2 NA18954.hp1 others(1): Show HG01192.hp1 NA18940.hp2 NA18954.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0001c0018	a0001c0001t0002 a0001c0003t0001 a0001c0007t0005 others(1): Show a0001c0001t0002 a0001c0003t0001 a0001c0007t0005 a0001c0018t0005	a0001c0001t0002g0122 a0001c0003t0001g0365 a0001c0007t0005g0373 others(1): Show a0001c0001t0002g0122 a0001c0003t0001g0365 a0001c0007t0005g0373 a0001c0018t0005g0012	4	402	0.0100	48	c.186 others(65): Show c.186+3189_186+3236dupCCCTTCCCCAGCACAGTCCCCCACCCCT TCCCCAGCACAGTCCCCCAC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085557	C C	CTCCCCAG others(41): Show CTCCCCAGCACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACCCCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp2 others(47): Show HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00597.hp1 HG00735.hp2 HG00741.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01261.hp2 HG01433.hp1 HG02027.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02523.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02818.hp1 HG02970.hp2 HG03017.hp2 HG03139.hp2 HG03239.hp2 HG03669.hp1 NA18942.hp2 NA18955.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18967.hp2 NA18971.hp2 NA18973.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp2 NA19068.hp1 NA19077.hp2 NA19083.hp2 NA19087.hp2 NA19090.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0018 a0001c0020 a0001c0021 a0001c0025 a0001c0028 a0001c0055 a0001c0058 a0001c0065 a0003c0030	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(28): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0003t0001 a0001c0003t0007 a0001c0003t0014 a0001c0004t0004 a0001c0005t0004 a0001c0005t0006 a0001c0006t0001 a0001c0006t0007 a0001c0006t0013 a0001c0007t0005 a0001c0008t0005 a0001c0009t0001 a0001c0010t0001 a0001c0011t0004 a0001c0012t0002 a0001c0018t0005 a0001c0020t0001 a0001c0021t0002 a0001c0021t0010 a0001c0025t0009 a0001c0028t0007 a0001c0055t0005 a0001c0058t0010 a0001c0065t0001 a0003c0030t0003	a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0225 others(47): Show a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0225 a0001c0001t0002g0381 a0001c0001t0003g0018 a0001c0001t0003g0034 a0001c0001t0003g0230 a0001c0001t0008g0208 a0001c0002t0002g0133 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0210 a0001c0002t0002g0246 a0001c0002t0002g0336 a0001c0002t0002g0378 a0001c0002t0004g0344 a0001c0002t0006g0189 a0001c0002t0006g0227 a0001c0002t0006g0229 a0001c0003t0001g0033 a0001c0003t0001g0117 a0001c0003t0001g0198 a0001c0003t0001g0205 a0001c0003t0007g0157 a0001c0003t0014g0228 a0001c0004t0004g0234 a0001c0005t0004g0221 a0001c0005t0006g0217 a0001c0006t0001g0197 a0001c0006t0001g0203 a0001c0006t0007g0250 a0001c0006t0013g0019 a0001c0007t0005g0209 a0001c0007t0005g0232 a0001c0007t0005g0333 a0001c0008t0005g0202 a0001c0009t0001g0224 a0001c0010t0001g0231 a0001c0011t0004g0196 a0001c0012t0002g0220 a0001c0018t0005g0241 a0001c0020t0001g0156 a0001c0021t0002g0143 a0001c0021t0010g0206 a0001c0025t0009g0226 a0001c0028t0007g0214 a0001c0055t0005g0233 a0001c0058t0010g0215 a0001c0065t0001g0165 a0003c0030t0003g0211	50	402	0.1244	48	c.186 others(65): Show c.186+3116_186+3117insTCCCTCCCCAGCACAGTCCCCCACCCCT TCCCCAGCACAGTCCCCCAC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3085605	T T	TCCCCAGC others(41): Show TCCCCAGCACAGTCCCCCACTCCACTCTCCAGCACGGTCCCCCATTCCC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0255 a0001c0003t0001g0255	1	402	0.0025	48	c.186 others(65): Show c.186+3144_186+3145insCCCCAGCACAGTCCCCCACTCCACTCTC CAGCACGGTCCCCCATTCCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21			chr10	TogoVar
PGC_chr6_41731711_41752397	41738178	A A	ACATATAT others(41): Show ACATATATATATGCATATATATATGCATATATATATGCATATATATATG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	464	0.0022	48	c.916 others(63): Show c.916-398_916-351dupCATATATATATGCATATATATATGCATATA TATATGCATATATATATG	PGC	ENSG00000096088.16	transcript	ENST00000373025.7	protein_coding	7/8			chr6	TogoVar
PGC_chr6_41731711_41752397	41738190	G G	GCATATAT others(41): Show GCATATATATATGCATATATATATGCATATATATATGCATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	464	0.0022	48	c.916 others(63): Show c.916-363_916-362insTATATATATATGCATATATATATGCATATA TATATGCATATATATATG	PGC	ENSG00000096088.16	transcript	ENST00000373025.7	protein_coding	7/8			chr6	TogoVar
PGC_chr6_41731711_41752397	41738239	T T	TATATATA others(41): Show TATATATATGCATATATATATGCATATATATATATACATATATATACAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	464	0.0022	48	c.916 others(63): Show c.916-412_916-411insGTGTATATATATGTATATATATATATGCAT ATATATATGCATATATAT	PGC	ENSG00000096088.16	transcript	ENST00000373025.7	protein_coding	7/8			chr6	TogoVar
PGPEP1_chr19_18335598_18374950	18364083	G G	GCTGGCTT others(41): Show GCTGGCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0311 a0001c0001t0311	a0001c0001t0311g0322 a0001c0001t0311g0322	1	412	0.0024	48	c.50 others(57): Show c.502_*503insGGCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTGCTTTCT	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(41): Show GCTGGCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG03139.hp2 HG01516.hp1 HG01517.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0159 a0001c0001t0050 a0001c0001t0159	a0001c0001t0050g0028 a0001c0001t0159g0027 a0001c0001t0050g0028 a0001c0001t0159g0027	3	412	0.0073	48	c.50 others(57): Show c.502_*503insGGCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCT	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(41): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTTCTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01123.hp1 HG02622.hp1 HG02717.hp1 others(2): Show HG01123.hp1 HG02622.hp1 HG02717.hp1 HG02818.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0052 a0001c0001t0230 a0001c0001t0011 a0001c0001t0052 a0001c0001t0230	a0001c0001t0011g0177 a0001c0001t0011g0179 a0001c0001t0011g0180 others(2): Show a0001c0001t0011g0177 a0001c0001t0011g0179 a0001c0001t0011g0180 a0001c0001t0052g0107 a0001c0001t0230g0162	5	412	0.0121	48	c.53 others(57): Show c.531_*532insTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTTCTT GCTTTCTTTCTT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	532	INFO_REALIGN_3_PRIME	chr19	TogoVar
PHACTR1_chr6_12711767_13292837	13003963	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATGTATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18983.hp2 NA18955.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0074 a0001c0001t0002g0075	2	108	0.0185	48	c.251 others(67): Show c.251-49401_251-49400insATATATATATATATATATATATATAT ATGTATATATATATATATATGT	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR3_chr20_59599540_59852711	59635169	C C	CTTTCTTT others(41): Show CTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	250	0.0040	48	c.118 others(67): Show c.118+30037_118+30038insTTTCTTTCTTTCCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12			chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59752559	T T	TCCTGCAA others(41): Show TCCTGCAAGAAGTCCTTGCAGAAAACCTGCAAGAAGTCCTTGCAGAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02738.hp2 HG01256.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0112 a0001c0001t0002g0215 a0001c0001t0001g0112 a0001c0001t0002g0215	2	250	0.0080	48	c.359 others(65): Show c.359-2589_359-2588insGTCCTTGCAGAAAACCTGCAAGAAGTCC TTGCAGAAAACCTGCAAGAA	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHC2_chr1_33318626_33436095	33393724	A A	AAACGATG others(41): Show AAACGATGACCTCAGCTGCTGCACAGCTCTTCACTGTTCTCTTAATACC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(276): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008	a0001c0001 a0001c0003 a0001c0006 others(9): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008 a0001c0011 a0001c0013 a0002c0004 a0003c0005 a0005c0015 a0006c0010 a0007c0012 a0008c0009	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(31): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0023 a0001c0001t0027 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0019 a0001c0006t0003 a0001c0006t0006 a0001c0006t0020 a0001c0008t0002 a0001c0011t0005 a0001c0013t0003 a0002c0004t0004 a0002c0004t0013 a0003c0005t0002 a0003c0005t0024 a0003c0005t0025 a0003c0005t0026 a0005c0015t0004 a0006c0010t0004 a0007c0012t0002 a0008c0009t0002	a0001c0001t0002g0267 a0001c0001t0002g0272 a0001c0001t0002g0285 others(268): Show a0001c0001t0002g0267 a0001c0001t0002g0272 a0001c0001t0002g0285 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0357 a0001c0001t0005g0072 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0005g0086 a0001c0001t0005g0087 a0001c0001t0005g0088 a0001c0001t0005g0090 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0005g0095 a0001c0001t0005g0096 a0001c0001t0005g0183 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0259 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0005g0262 a0001c0001t0006g0246 a0001c0001t0006g0247 a0001c0001t0006g0248 a0001c0001t0007g0169 a0001c0001t0007g0170 a0001c0001t0007g0171 a0001c0001t0008g0176 a0001c0001t0008g0177 a0001c0001t0008g0178 a0001c0001t0009g0298 a0001c0001t0009g0307 a0001c0001t0009g0342 a0001c0001t0010g0010 a0001c0001t0010g0344 a0001c0001t0011g0172 a0001c0001t0011g0173 a0001c0001t0012g0076 a0001c0001t0012g0083 a0001c0001t0014g0245 a0001c0001t0014g0249 a0001c0001t0015g0270 a0001c0001t0015g0291 a0001c0001t0017g0089 a0001c0001t0023g0343 a0001c0001t0027g0317 a0001c0003t0001g0194 a0001c0003t0001g0201 a0001c0003t0003g0001 a0001c0003t0003g0002 a0001c0003t0003g0008 a0001c0003t0003g0065 a0001c0003t0003g0186 a0001c0003t0003g0187 a0001c0003t0003g0188 a0001c0003t0003g0189 a0001c0003t0003g0190 a0001c0003t0003g0191 a0001c0003t0003g0192 a0001c0003t0003g0193 a0001c0003t0003g0195 a0001c0003t0003g0196 a0001c0003t0003g0197 a0001c0003t0003g0198 a0001c0003t0003g0199 a0001c0003t0003g0200 a0001c0003t0003g0202 a0001c0003t0003g0203 a0001c0003t0003g0204 a0001c0003t0003g0205 a0001c0003t0003g0206 a0001c0003t0003g0207 a0001c0003t0003g0208 a0001c0003t0003g0209 a0001c0003t0003g0210 a0001c0003t0003g0211 a0001c0003t0003g0212 a0001c0003t0003g0213 a0001c0003t0003g0214 a0001c0003t0003g0215 a0001c0003t0003g0216 a0001c0003t0003g0217 a0001c0003t0003g0218 a0001c0003t0003g0219 a0001c0003t0003g0220 a0001c0003t0003g0221 a0001c0003t0003g0222 a0001c0003t0003g0223 a0001c0003t0003g0225 a0001c0003t0003g0227 a0001c0003t0003g0228 a0001c0003t0003g0229 a0001c0003t0003g0230 a0001c0003t0003g0231 a0001c0003t0003g0232 a0001c0003t0003g0233 a0001c0003t0003g0234 a0001c0003t0003g0235 a0001c0003t0003g0236 a0001c0003t0003g0238 a0001c0003t0003g0239 a0001c0003t0003g0240 a0001c0003t0003g0241 a0001c0003t0003g0242 a0001c0003t0003g0243 a0001c0003t0005g0237 a0001c0003t0019g0224 a0001c0006t0003g0264 a0001c0006t0003g0265 a0001c0006t0003g0266 a0001c0006t0006g0179 a0001c0006t0006g0180 a0001c0006t0006g0182 a0001c0006t0006g0184 a0001c0006t0006g0185 a0001c0006t0020g0181 a0001c0008t0002g0347 a0001c0008t0002g0349 a0001c0011t0005g0258 a0001c0013t0003g0226 a0002c0004t0004g0003 a0002c0004t0004g0014 a0002c0004t0004g0015 a0002c0004t0004g0016 a0002c0004t0004g0017 a0002c0004t0004g0018 a0002c0004t0004g0019 a0002c0004t0004g0020 a0002c0004t0004g0021 a0002c0004t0004g0023 a0002c0004t0004g0024 a0002c0004t0004g0025 a0002c0004t0004g0027 a0002c0004t0004g0028 a0002c0004t0004g0029 a0002c0004t0004g0030 a0002c0004t0004g0031 a0002c0004t0004g0032 a0002c0004t0004g0033 a0002c0004t0004g0034 a0002c0004t0004g0035 a0002c0004t0004g0036 a0002c0004t0004g0037 a0002c0004t0004g0038 a0002c0004t0004g0039 a0002c0004t0004g0040 a0002c0004t0004g0041 a0002c0004t0004g0042 a0002c0004t0004g0043 a0002c0004t0004g0044 a0002c0004t0004g0045 a0002c0004t0004g0046 a0002c0004t0004g0047 a0002c0004t0004g0048 a0002c0004t0004g0049 a0002c0004t0004g0050 a0002c0004t0004g0051 a0002c0004t0004g0052 a0002c0004t0004g0053 a0002c0004t0004g0054 a0002c0004t0004g0055 a0002c0004t0004g0056 a0002c0004t0004g0057 a0002c0004t0004g0058 a0002c0004t0004g0059 a0002c0004t0004g0060 a0002c0004t0004g0061 a0002c0004t0004g0062 a0002c0004t0004g0063 a0002c0004t0004g0064 a0002c0004t0004g0066 a0002c0004t0004g0067 a0002c0004t0004g0068 a0002c0004t0004g0069 a0002c0004t0004g0070 a0002c0004t0004g0071 a0002c0004t0004g0263 a0002c0004t0013g0012 a0002c0004t0013g0013 a0003c0005t0002g0268 a0003c0005t0002g0269 a0003c0005t0002g0271 a0003c0005t0002g0273 a0003c0005t0002g0275 a0003c0005t0002g0276 a0003c0005t0002g0277 a0003c0005t0002g0278 a0003c0005t0002g0279 a0003c0005t0002g0280 a0003c0005t0002g0281 a0003c0005t0002g0282 a0003c0005t0002g0283 a0003c0005t0002g0284 a0003c0005t0002g0286 a0003c0005t0002g0288 a0003c0005t0002g0289 a0003c0005t0002g0290 a0003c0005t0002g0292 a0003c0005t0002g0293 a0003c0005t0002g0294 a0003c0005t0002g0295 a0003c0005t0002g0350 a0003c0005t0002g0352 a0003c0005t0002g0353 a0003c0005t0002g0354 a0003c0005t0002g0355 a0003c0005t0002g0356 a0003c0005t0024g0296 a0003c0005t0025g0351 a0003c0005t0026g0274 a0005c0015t0004g0026 a0006c0010t0004g0022 a0007c0012t0002g0287 a0008c0009t0002g0348	279	370	0.7541	48	c.-54 others(67): Show c.-54-18132_-54-18131insGGTATTAAGAGAACAGTGAAGAGCTG TGCAGCAGCTGAGGTCATCGTT	PHC2	ENSG00000134686.21	transcript	ENST00000683057.1	protein_coding	1/14			chr1	TogoVar
PHF14_chr7_10968872_11174618	11161668	C C	CTAAATAA others(41): Show CTAAATAAAAATATTATATTTTATTTAAATAAAAATATTATATTTTATT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA21309.hp1 HG03453.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0029 a0001c0002t0001g0030	2	298	0.0067	48	c.277 others(67): Show c.2773-7709_2773-7662dupATATTTTATTTAAATAAAAATATTAT ATTTTATTTAAATAAAAATATT	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(41): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	350	0.0029	48	c.51 others(59): Show c.5138_*5139insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2447		chr10	TogoVar
PIAS1_chr15_68049315_68198847	68050450	T T	TATATATA others(41): Show TATATATATATTCATATATATATACATATATATATTCATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	260	0.0039	48	c.-38 others(59): Show c.-3877_-3876insATATATATATTCATATATATATACATATATATAT TCATATATATATAC	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding		3864		chr15	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(41): Show CACACACACACACACACACACACACACACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18957.hp2 HG02040.hp2 NA18957.hp2	a0002 a0007 a0002 a0007	a0002c0069 a0007c0086 a0002c0069 a0007c0086	a0002c0069t0001 a0007c0086t0001 a0002c0069t0001 a0007c0086t0001	a0002c0069t0001g0136 a0007c0086t0001g0009 a0002c0069t0001g0136 a0007c0086t0001g0009	2	158	0.0127	48	c.719 others(65): Show c.7191-400_7191-399insATATATATATATATATATGTGTGTGTGT GTGTGTGTGTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(41): Show CACACACACACACACACACACACACACACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0014 a0014	a0014c0083 a0014c0083	a0014c0083t0002 a0014c0083t0002	a0014c0083t0002g0132 a0014c0083t0002g0132	1	158	0.0063	48	c.719 others(65): Show c.7191-400_7191-399insATATATATATATATATATATGTGTGTGT GTGTGTGTGTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(41): Show CACACACACACACACACACACACACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18941.hp1 HG02027.hp1 NA18941.hp1	a0002 a0013 a0002 a0013	a0002c0001 a0013c0089 a0002c0001 a0013c0089	a0002c0001t0001 a0013c0089t0002 a0002c0001t0001 a0013c0089t0002	a0002c0001t0001g0011 a0013c0089t0002g0060 a0002c0001t0001g0011 a0013c0089t0002g0060	2	158	0.0127	48	c.719 others(65): Show c.7191-400_7191-399insATATATATATATATATATATATGTGTGT GTGTGTGTGTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(41): Show CACACACACACACACACACACACACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19005.hp1 HG02258.hp2 NA19005.hp1	a0001 a0015 a0001 a0015	a0001c0002 a0015c0085 a0001c0002 a0015c0085	a0001c0002t0001 a0015c0085t0001 a0001c0002t0001 a0015c0085t0001	a0001c0002t0001g0155 a0015c0085t0001g0064 a0001c0002t0001g0155 a0015c0085t0001g0064	2	158	0.0127	48	c.719 others(65): Show c.7191-400_7191-399insATATATATATATATATATATATATGTGT GTGTGTGTGTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(41): Show CACACACACACACACACACACACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02109.hp2 HG00639.hp1 HG02109.hp2	a0006 a0017 a0006 a0017	a0006c0004 a0017c0016 a0006c0004 a0017c0016	a0006c0004t0001 a0017c0016t0003 a0006c0004t0001 a0017c0016t0003	a0006c0004t0001g0120 a0017c0016t0003g0090 a0006c0004t0001g0120 a0017c0016t0003g0090	2	158	0.0127	48	c.719 others(65): Show c.7191-400_7191-399insATATATATATATATATATATATATATGT GTGTGTGTGTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10691782	C C	CACACACA others(41): Show CACACACACACACACACATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0118 a0001c0003t0001g0118	1	158	0.0063	48	c.719 others(65): Show c.7191-400_7191-399insATATATATATATATATATATATATATAT ATATGTGTGTGTGTGTGTGT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	47/55			chr18	TogoVar

Search by Variant

Search

Search Results