Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PADI1_chr1_17200128_17251007	17241471	GGAATCGG others(65): Show GGAATCGGGATGGAATCAGGGTTGGAAGTGAAAGTCGGAATCGGGATGGA ATCAGGGTTGGAAGTGAATGTCA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01255.hp1 HG02145.hp1 others(5): Show HG01106.hp2 HG01255.hp1 HG02145.hp1 HG02622.hp2 HG02738.hp2 NA18939.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0046 a0001c0002t0001g0056 a0001c0002t0001g0057 others(5): Show a0001c0002t0001g0046 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0215 a0001c0002t0001g0217 a0001c0002t0001g0342 a0001c0004t0001g0128 a0001c0004t0001g0388	8	406	0.0197	-72	c.175 others(89): Show c.1758+743_1758+814delAGTCGGAATCGGGATGGAATCAGGGTTG GAAGTGAATGTCAGAATCGGGATGGAATCAGGGTTGGAAGTGAA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI1_chr1_17200128_17251007	17241647	TGTCGGAA others(65): Show TGTCGGAATCGGGATGGAATCAGGGTTGGAAGTGAATGTCGGAATCGGGA TGGAATCAGGGTTGGAAGTGAAA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01255.hp1 HG02145.hp1 others(5): Show HG01106.hp2 HG01255.hp1 HG02145.hp1 HG02622.hp2 HG02738.hp2 NA18939.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0046 a0001c0002t0001g0056 a0001c0002t0001g0057 others(5): Show a0001c0002t0001g0046 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0215 a0001c0002t0001g0217 a0001c0002t0001g0342 a0001c0004t0001g0128 a0001c0004t0001g0388	8	406	0.0197	-72	c.175 others(90): Show c.1758+959_1758+1030delAGTCGGAATCGGGATGGAATCAGGGTT GGAAGTGAATGTCGGAATCGGGATGGAATCAGGGTTGGAAGTGAA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAK2_chr3_196734857_196837647	196828009	ATCCTCAG others(65): Show ATCCTCAGACCTGTTTACAGTTTGTGCATCGTATCAATCCTCAGACCTGT TTACAGTTTGTGCATCGTATCAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp1 HG01071.hp2 others(9): Show HG00639.hp2 HG01070.hp1 HG01071.hp2 HG01515.hp2 HG01517.hp1 HG02630.hp1 HG02738.hp2 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0010 a0001c0001t0016 a0001c0001t0026 others(6): Show a0001c0001t0010 a0001c0001t0016 a0001c0001t0026 a0001c0001t0028 a0001c0001t0036 a0001c0001t0058 a0001c0002t0010 a0001c0002t0057 a0002c0006t0010	a0001c0001t0010g0133 a0001c0001t0016g0073 a0001c0001t0016g0075 others(9): Show a0001c0001t0010g0133 a0001c0001t0016g0073 a0001c0001t0016g0075 a0001c0001t0016g0110 a0001c0001t0026g0077 a0001c0001t0026g0078 a0001c0001t0028g0174 a0001c0001t0036g0041 a0001c0001t0058g0099 a0001c0002t0010g0105 a0001c0002t0057g0076 a0002c0006t0010g0104	12	178	0.0674	-72	c.148 others(89): Show c.1489-293_1489-222delCAGTTTGTGCATCGTATCAATCCTCAGA CCTGTTTACAGTTTGTGCATCGTATCACTCCTCAGACCTGTTTA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PALM2AKAP2_chr9_109775198_110177512	109988562	AGGAAGGA others(65): Show AGGAAGGAGGAAGGAAGGAAAAAAGGAAGAAAGGAAGGAAGGAAGGAACG AAGGAAGGATCGAAGGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00733.hp2 others(29): Show HG00140.hp2 HG00438.hp2 HG00733.hp2 HG00741.hp1 HG01175.hp1 HG01255.hp2 HG01346.hp2 HG01361.hp1 HG01516.hp2 HG01978.hp1 HG02083.hp1 HG02155.hp2 HG02300.hp1 HG02622.hp2 HG02647.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03540.hp1 HG04199.hp2 NA18522.hp2 NA18942.hp1 NA18950.hp2 NA18968.hp2 NA19030.hp1 NA19062.hp1 NA19066.hp1 NA19080.hp2 NA19086.hp2 NA20300.hp1 NA20752.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0009 a0014 a0015	a0001c0001 a0001c0007 a0002c0002 others(7): Show a0001c0001 a0001c0007 a0002c0002 a0002c0004 a0003c0003 a0004c0005 a0005c0008 a0009c0020 a0014c0014 a0015c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0030 a0001c0007t0001 a0001c0007t0032 a0002c0002t0003 a0002c0002t0004 a0002c0002t0018 a0002c0004t0002 a0002c0004t0033 a0003c0003t0001 a0004c0005t0015 a0005c0008t0006 a0009c0020t0003 a0014c0014t0004 a0015c0012t0001	a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0061 others(29): Show a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0061 a0001c0001t0002g0021 a0001c0001t0002g0096 a0001c0001t0002g0113 a0001c0001t0002g0135 a0001c0001t0002g0221 a0001c0001t0008g0116 a0001c0001t0009g0068 a0001c0001t0011g0170 a0001c0001t0013g0109 a0001c0001t0030g0045 a0001c0007t0001g0048 a0001c0007t0032g0150 a0002c0002t0003g0007 a0002c0002t0003g0118 a0002c0002t0004g0119 a0002c0002t0018g0089 a0002c0004t0002g0065 a0002c0004t0002g0189 a0002c0004t0033g0145 a0003c0003t0001g0022 a0003c0003t0001g0026 a0003c0003t0001g0046 a0003c0003t0001g0062 a0003c0003t0001g0098 a0004c0005t0015g0103 a0005c0008t0006g0194 a0009c0020t0003g0140 a0014c0014t0004g0126 a0015c0012t0001g0117	32	222	0.1441	-72	c.497 others(91): Show c.497-27370_497-27299delAAGGAAGAAAGGAAGGAAGGAAGGAA CGAAGGAAGGATCGAAGGGAGGGAGGGAAGGAGGAAGGAAGGAAAA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PANX2_chr22_50165731_50185295	50166049	GCAATCCC others(65): Show GCAATCCCAGCGTGGCCCACGTCTCCAATCCCAGCGTGGCTCAAGCCTGC AATCCCAGCGTGGCCCACGTCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0103 a0001c0002t0014g0103	1	440	0.0023	-72	c.-46 others(83): Show c.-4681_-4610delCAATCCCAGCGTGGCCCACGTCTCCAATCCCAGC GTGGCTCAAGCCTGCAATCCCAGCGTGGCCCACGTCTC	PANX2	ENSG00000073150.14	transcript	ENST00000395842.3	protein_coding		4681		chr22	TogoVar
PANX2_chr22_50165731_50185295	50166260	CATCTCCA others(65): Show CATCTCCAATCCCAGCGTGGCCCACGTCTCCGATCCCAGCGTGGCTCAAG CCTGCAATCCCAGCGTGGCTCAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01081.hp2 HG01109.hp2 others(2): Show HG00639.hp1 HG01081.hp2 HG01109.hp2 HG01169.hp1 NA20905.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0002 a0007c0010t0002 a0001c0001t0002 a0007c0010t0002	a0001c0001t0002g0001 a0001c0001t0002g0108 a0001c0001t0002g0124 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0108 a0001c0001t0002g0124 a0007c0010t0002g0001	5	440	0.0114	-72	c.-44 others(83): Show c.-4470_-4399delATCTCCAATCCCAGCGTGGCCCACGTCTCCGATC CCAGCGTGGCTCAAGCCTGCAATCCCAGCGTGGCTCAA	PANX2	ENSG00000073150.14	transcript	ENST00000395842.3	protein_coding		4470		chr22	TogoVar
PAQR5_chr15_69293912_69412780	69300693	TCTCTCTC others(65): Show TCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCATTCTTTCTCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	284	0.0035	-72	c.-27 others(91): Show c.-277+1641_-277+1712delTCTCTCTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCATTCTTTCTCTTCCTTCCTC	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300701	TCTCTTTC others(65): Show TCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCAT TCTTTCTCTTCCTTCCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp2 HG02809.hp1 others(8): Show HG02280.hp1 HG02280.hp2 HG02809.hp1 HG03225.hp1 HG03516.hp1 HG03704.hp2 HG04204.hp1 NA18522.hp2 NA18959.hp1 NA18968.hp1 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0002c0002t0009	a0001c0001t0001g0003 a0001c0001t0001g0048 a0001c0001t0001g0080 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0048 a0001c0001t0001g0080 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0002c0002t0001g0044 a0002c0002t0009g0050	11	284	0.0387	-72	c.-27 others(91): Show c.-277+1650_-277+1721delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCATTCTTTCTCTTCCTTCCTCCCTCCCTCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARVB_chr22_44019302_44177939	44154975	GGTGTGTG others(65): Show GGTGTGTGTGTGGTTTTTGTAGTCTGTGTGGTGTGTGTGTGTGGTTTTTG TAGTCTGTGTGGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01256.hp2 HG01258.hp1 others(43): Show HG01099.hp2 HG01256.hp2 HG01258.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02027.hp2 HG02055.hp2 HG02280.hp2 HG02523.hp1 HG02698.hp1 HG03490.hp2 HG03654.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18955.hp1 NA18959.hp1 NA18962.hp1 NA18967.hp1 NA18971.hp2 NA18973.hp1 NA18984.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA19004.hp2 NA19012.hp1 NA19065.hp2 NA19067.hp2 NA19074.hp1 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0013 a0001c0024 a0002c0003 a0009c0026	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(27): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0017 a0001c0001t0024 a0001c0001t0026 a0001c0001t0033 a0001c0001t0037 a0001c0001t0038 a0001c0001t0050 a0001c0001t0068 a0001c0001t0080 a0001c0002t0001 a0001c0002t0004 a0001c0002t0007 a0001c0002t0017 a0001c0002t0018 a0001c0002t0039 a0001c0002t0060 a0001c0004t0001 a0001c0004t0003 a0001c0005t0003 a0001c0013t0005 a0001c0024t0001 a0002c0003t0001 a0002c0003t0006 a0002c0003t0017 a0009c0026t0001	a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0312 others(43): Show a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0312 a0001c0001t0003g0247 a0001c0001t0004g0035 a0001c0001t0004g0147 a0001c0001t0004g0229 a0001c0001t0004g0233 a0001c0001t0004g0241 a0001c0001t0004g0243 a0001c0001t0004g0252 a0001c0001t0004g0255 a0001c0001t0004g0269 a0001c0001t0004g0271 a0001c0001t0004g0293 a0001c0001t0005g0223 a0001c0001t0007g0009 a0001c0001t0007g0238 a0001c0001t0017g0081 a0001c0001t0024g0181 a0001c0001t0026g0082 a0001c0001t0033g0209 a0001c0001t0037g0059 a0001c0001t0038g0292 a0001c0001t0050g0218 a0001c0001t0068g0329 a0001c0001t0080g0305 a0001c0002t0001g0066 a0001c0002t0001g0251 a0001c0002t0004g0173 a0001c0002t0007g0006 a0001c0002t0017g0278 a0001c0002t0018g0171 a0001c0002t0018g0172 a0001c0002t0039g0089 a0001c0002t0060g0280 a0001c0004t0001g0097 a0001c0004t0001g0289 a0001c0004t0003g0287 a0001c0005t0003g0133 a0001c0013t0005g0246 a0001c0024t0001g0030 a0002c0003t0001g0240 a0002c0003t0006g0281 a0002c0003t0017g0242 a0009c0026t0001g0277	46	332	0.1386	-72	c.844 others(89): Show c.844-2966_844-2895delTGGTTTTTGTAGTCTGTGTGGTGTGTGT GTGTGTGTGTGTGTGGTTTTTGTAGTCTGTGTGGTGTGTGTGTG	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PAXBP1_chr21_32728899_32776755	32771877	AGAGAGAG others(65): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG01109.hp2 others(31): Show HG00280.hp1 HG00621.hp1 HG01109.hp2 HG01255.hp2 HG01516.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02135.hp1 HG02155.hp2 HG02300.hp1 HG02486.hp2 HG03453.hp1 HG03516.hp2 HG03669.hp2 HG04115.hp2 NA18944.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18953.hp1 NA18961.hp2 NA18964.hp2 NA18978.hp1 NA18978.hp2 NA19005.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19072.hp1 NA19081.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0205 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0001g0247 a0001c0003t0001g0241	34	360	0.0944	-72	c.-28 others(81): Show c.-281_-210delGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		123		chr21	TogoVar
PCCA_chr13_100084093_100535435	100264148	CGTATATA others(65): Show CGTATATATATGGTATCTGTATATCGTATATATGTGATATCTGTATATCA TATATGTGATATCTGTATCTCAT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0078	1	174	0.0058	-72	c.819 others(89): Show c.819+1318_819+1389delGTATATATATGGTATCTGTATATCGTAT ATATGTGATATCTGTATATCATATATGTGATATCTGTATCTCAT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	10/23			chr13	TogoVar
PCDH15_chr10_53797771_54806231	54307040	GTATATAT others(65): Show GTATATATATATATATATATATATATATATATATATATATACATATATAT ATATGTGTGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03486.hp1 HG03942.hp2 HG01192.hp2 HG03486.hp1 HG03942.hp2	a0003 a0033 a0035 a0003 a0033 a0035	a0003c0003 a0033c0023 a0035c0025 a0003c0003 a0033c0023 a0035c0025	a0003c0003t0002 a0033c0023t0026 a0035c0025t0007 a0003c0003t0002 a0033c0023t0026 a0035c0025t0007	a0003c0003t0002g0020 a0033c0023t0026g0082 a0035c0025t0007g0079 a0003c0003t0002g0020 a0033c0023t0026g0082 a0035c0025t0007g0079	3	102	0.0294	-72	c.876 others(91): Show c.876+10159_876+10230delTATATATACACACACACACATATATA TATATGTATATATATATATATATATATATATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	8/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54307040	GTATATAT others(65): Show GTATATATATATATATATATATATATATATATATATATATACATATATAT ATATGTGTGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03486.hp1 HG03942.hp2 HG01192.hp2 HG03486.hp1 HG03942.hp2	a0002 a0003 a0031 a0002 a0003 a0031	a0002c0006 a0003c0005 a0031c0032 a0002c0006 a0003c0005 a0031c0032	a0002c0006t0005 a0003c0005t0001 a0031c0032t0001 a0002c0006t0005 a0003c0005t0001 a0031c0032t0001	a0002c0006t0005g0074 a0003c0005t0001g0020 a0031c0032t0001g0072 a0002c0006t0005g0074 a0003c0005t0001g0020 a0031c0032t0001g0072	3	94	0.0319	-72	c.876 others(91): Show c.876+10159_876+10230delTATATATACACACACACACATATATA TATATGTATATATATATATATATATATATATATATATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	8/32			chr10	TogoVar
PCGF3_chr4_700832_775089	708015	CCCTGGGG others(65): Show CCCTGGGGGCCGGGACCCTGGGACAGCCCTGTTTTCACCTGGGGGCCGGG ACCCTGGGACAGCCCTGTTTTCA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18998.hp2 HG02976.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0052 a0001c0001t0001 a0001c0001t0052	a0001c0001t0001g0007 a0001c0001t0052g0037 a0001c0001t0001g0007 a0001c0001t0052g0037	2	366	0.0055	-72	c.-19 others(91): Show c.-190+2065_-190+2136delGGACAGCCCTGTTTTCACCTGGGGGC CGGGACCCTGGGACAGCCCTGTTTTCACCTGGGGGCCGGGACCCTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE11A_chr2_177618244_178077777	177631501	AAAAAAAA others(65): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATATACAC ATGTATATATATATATATACATG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0009 a0005c0012t0009	a0005c0012t0009g0088 a0005c0012t0009g0088	1	170	0.0059	-72	c.264 others(91): Show c.2647-2011_2647-1940delCATGTATATATATATATATACATGTG TATATATATATATATATATATATATATATATATATTTTTTTTTTTT	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	19/19			chr2	TogoVar
PDE6B_chr4_620573_675782	651687	CTCTGGAG others(65): Show CTCTGGAGCTATGAAGAGCCGTCTCCATTCAGCAGGCGCCGGGGCTATGG GGAGCCGTCTCCATTCAGCAGGT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19240.hp1 HG02630.hp2 NA19240.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0266 a0005c0011t0001g0267 a0005c0011t0001g0266 a0005c0011t0001g0267	2	308	0.0065	-72	c.712 others(89): Show c.712-2164_712-2093delTCTGGAGCTATGAAGAGCCGTCTCCATT CAGCAGGCGCCGGGGCTATGGGGAGCCGTCTCCATTCAGCAGGT	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21			chr4	TogoVar
PDX1_chr13_27915000_27931313	27924130	TGGTGGCT others(65): Show TGGTGGCTCCGGCGGGAGCAGCTGGTAGGGCTAGGGCTCCCTGGCCCCCC TTGAAGGGGTTGGGCTGCGTGGG	T T	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0017 a0001c0001t0024g0017	1	434	0.0023	-72	c.407 others(86): Show c.407-125_407-54delGGTGGCTCCGGCGGGAGCAGCTGGTAGGGCT AGGGCTCCCTGGCCCCCCTTGAAGGGGTTGGGCTGCGTGGG	PDX1	ENSG00000139515.6	transcript	ENST00000381033.5	protein_coding	1/1			chr13	TogoVar
PHF2_chr9_93571584_93684587	93672120	GTGTGGGT others(65): Show GTGTGGGTGCGGATGTAGGTACAGGTGTAGATGCAGGTGTGGGTGTGGAT GTAGGTACAGGTGTAGATGCAGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03098.hp1 HG06807.hp2 HG02109.hp2 HG03098.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0003t0008 a0001c0001t0008 a0001c0003t0008	a0001c0001t0008g0291 a0001c0001t0008g0292 a0001c0003t0008g0288 a0001c0001t0008g0291 a0001c0001t0008g0292 a0001c0003t0008g0288	3	350	0.0086	-72	c.234 others(91): Show c.2349-1456_2349-1385delCGGATGTAGGTACAGGTGTAGATGCA GGTGTGGGTGTGGATGTAGGTACAGGTGTAGATGCAGATGTGGGTG	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PI4K2A_chr10_97635671_97681434	97678880	GGTGTGTG others(65): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03579.hp1 NA18939.hp2 HG03195.hp1 HG03579.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0008 a0001c0002t0027 a0001c0001t0001 a0001c0002t0008 a0001c0002t0027	a0001c0001t0001g0185 a0001c0002t0008g0326 a0001c0002t0027g0338 a0001c0001t0001g0185 a0001c0002t0008g0326 a0001c0002t0027g0338	3	350	0.0086	-72	c.51 others(83): Show c.5139_*5210delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2447		chr10	TogoVar
PICK1_chr22_38052404_38080701	38080327	GCACAGTG others(65): Show GCACAGTGAAAGACACCAGTGCTTCTCCCCATCTGCCCGCTGAGCACCCC CACTCTGTTTCTGGCCCCAACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	428	0.0023	-72	c.51 others(83): Show c.5196_*5267delCACAGTGAAAGACACCAGTGCTTCTCCCCATCTG CCCGCTGAGCACCCCCACTCTGTTTCTGGCCCCAACAC	PICK1	ENSG00000100151.16	transcript	ENST00000356976.8	protein_coding		4627		chr22	TogoVar
PIGQ_chr16_564968_589109	571108	TCTGGCTA others(65): Show TCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGG CACCCGTGGCTAGCCTGGCGCCC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01981.hp1 HG02630.hp2 others(2): Show HG01168.hp1 HG01981.hp1 HG02630.hp2 HG03139.hp1 NA19240.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0004 a0002c0001 a0008c0023 a0001c0004 a0002c0001 a0008c0023	a0001c0004t0004 a0001c0004t0006 a0002c0001t0001 others(1): Show a0001c0004t0004 a0001c0004t0006 a0002c0001t0001 a0008c0023t0004	a0001c0004t0004g0333 a0001c0004t0004g0334 a0001c0004t0006g0244 others(2): Show a0001c0004t0004g0333 a0001c0004t0004g0334 a0001c0004t0006g0244 a0002c0001t0001g0332 a0008c0023t0004g0043	5	408	0.0123	-72	c.-10 others(89): Show c.-10+1013_-10+1084delCTGGCTAGCCTGGTGCCCGTGTGTGTGT GTGTGTGTCTGGCTAGCCTGGCACCCGTGGCTAGCCTGGCGCCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
PIGQ_chr16_564968_589109	579427	CCTAGAGG others(65): Show CCTAGAGGTGCCCCGGGCCCAGAGACTAGAGATGCCCCGGGCCCGGAGAC TAGAGGTGCCCCGGGCCCGGAGA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(92): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG00733.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp2 HG02273.hp1 HG02300.hp2 HG02602.hp1 HG02683.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG03225.hp1 HG03491.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18612.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18944.hp2 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18956.hp1 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA20905.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0002 a0001c0022 a0003c0003 others(2): Show a0001c0002 a0001c0022 a0003c0003 a0004c0005 a0007c0028	a0001c0002t0002 a0001c0022t0002 a0003c0003t0003 others(2): Show a0001c0002t0002 a0001c0022t0002 a0003c0003t0003 a0004c0005t0002 a0007c0028t0002	a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0003 others(57): Show a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0111 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0259 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0268 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0288 a0001c0002t0002g0290 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0313 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0318 a0001c0022t0002g0282 a0003c0003t0003g0061 a0003c0003t0003g0067 a0004c0005t0002g0001 a0004c0005t0002g0273 a0004c0005t0002g0274 a0007c0028t0002g0030	95	408	0.2328	-72	c.133 others(89): Show c.1335+267_1335+338delAGAGACTAGAGATGCCCCGGGCCCGGAG ACTAGAGGTGCCCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	579447	AGAGACTA others(65): Show AGAGACTAGAGATGCCCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGG AGACTAGAGGTGCCCCGGGCCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(43): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00738.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01433.hp1 HG01884.hp1 HG01891.hp2 HG01981.hp1 HG02145.hp2 HG02602.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03688.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp2 NA18906.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp2 NA19043.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp2	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0002 a0001c0004 a0001c0024 others(5): Show a0001c0002 a0001c0004 a0001c0024 a0003c0003 a0003c0020 a0003c0025 a0003c0026 a0010c0027	a0001c0002t0006 a0001c0004t0004 a0001c0004t0006 others(11): Show a0001c0002t0006 a0001c0004t0004 a0001c0004t0006 a0001c0004t0014 a0001c0024t0001 a0003c0003t0003 a0003c0003t0006 a0003c0003t0008 a0003c0003t0009 a0003c0003t0013 a0003c0020t0003 a0003c0025t0003 a0003c0026t0003 a0010c0027t0003	a0001c0002t0006g0124 a0001c0002t0006g0137 a0001c0002t0006g0180 others(39): Show a0001c0002t0006g0124 a0001c0002t0006g0137 a0001c0002t0006g0180 a0001c0002t0006g0190 a0001c0002t0006g0217 a0001c0002t0006g0239 a0001c0004t0004g0329 a0001c0004t0004g0331 a0001c0004t0004g0333 a0001c0004t0006g0242 a0001c0004t0006g0244 a0001c0004t0014g0330 a0001c0024t0001g0038 a0003c0003t0003g0012 a0003c0003t0003g0014 a0003c0003t0003g0015 a0003c0003t0003g0054 a0003c0003t0003g0062 a0003c0003t0003g0069 a0003c0003t0003g0070 a0003c0003t0003g0071 a0003c0003t0003g0072 a0003c0003t0003g0073 a0003c0003t0003g0076 a0003c0003t0003g0079 a0003c0003t0003g0085 a0003c0003t0003g0087 a0003c0003t0003g0088 a0003c0003t0003g0110 a0003c0003t0003g0320 a0003c0003t0006g0013 a0003c0003t0006g0077 a0003c0003t0006g0080 a0003c0003t0008g0074 a0003c0003t0008g0075 a0003c0003t0009g0011 a0003c0003t0009g0052 a0003c0003t0013g0013 a0003c0020t0003g0083 a0003c0025t0003g0082 a0003c0026t0003g0078 a0010c0027t0003g0068	46	408	0.1128	-72	c.133 others(89): Show c.1335+278_1335+349delATGCCCCGGGCCCGGAGACTAGAGGTGC CCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGGAGACTAGAG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	579574	TGAGGTGC others(65): Show TGAGGTGCCCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGGAGACTAG AGGTGCCCCGGGCCCGGAGACTA	T T	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0192 a0002c0001t0001g0192	1	408	0.0025	-72	c.133 others(89): Show c.1335+442_1336-490delAGAGGTGCCCCGGGCCCGGAGACTAGAG GTGCCCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGGAGACT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	579622	AGAGGTGC others(65): Show AGAGGTGCCCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGGAGACTAG AGGTGCCCCGGGCCCGGAGACTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0299 a0001c0002t0002g0299	1	408	0.0025	-72	c.133 others(89): Show c.1335+490_1336-442delAGAGGTGCCCCGGGCCCGGAGACTTGAG GTGCCCCGGGCCCGGAGACTAGAGGTGCCCCGGGCCCGGAGACT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGZ_chr3_196941356_196973833	196948888	CCCCTTCC others(65): Show CCCCTTCCTTCCCTTCCCCTCCCCTCCCTTCCCTTCCTTCCCTTTACTTC CCTTCCTTCCCCTCCCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp1 HG01071.hp1 HG00639.hp2 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0035 a0001c0006t0001g0092 a0001c0006t0001g0035 a0001c0006t0001g0092	3	424	0.0071	-72	c.212 others(87): Show c.212-275_212-204delAAGGGAGGGGAGGGGAAGGAAGGGAAGTAA AGGGAAGGAAGGGAAGGGAGGGGAGGGGAAGGGAAGGAAGGG	PIGZ	ENSG00000119227.8	transcript	ENST00000412723.6	protein_coding	2/2			chr3	TogoVar
PLCL1_chr2_197799593_198154863	197866053	ACACACAC others(65): Show ACACACACACACACACTATATATATATATATATATAAACTATATATATAT ATAAACTATATATATATATAAAC	A A	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0087 a0002c0002t0003g0087	1	204	0.0049	-72	c.240 others(91): Show c.240+60715_240+60786delCACACACACACACACTATATATATAT ATATATATAAACTATATATATATATAAACTATATATATATATAAAC	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5			chr2	TogoVar
PLD5_chr1_242077986_242529697	242393460	ATATGAGT others(65): Show ATATGAGTATATATATGTGTATATATGAGTATATATATGTGTATATATGA GTATATATATATGTGTATATATG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0083 a0001c0002t0083	a0001c0002t0083g0187 a0001c0002t0083g0187	1	188	0.0053	-72	c.190 others(91): Show c.190-45290_190-45219delCATATATACACATATATATATACTCA TATATACACATATATATACTCATATATACACATATATATACTCATA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242393515	TATATATG others(65): Show TATATATGTGTATATATGTGAGTATATATATGTGTATATATATGAGTATA TATGTGTATATATATGAGTATAC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00609.hp1 others(30): Show HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00738.hp2 HG01071.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG02027.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp2 HG02622.hp2 HG02886.hp1 HG02976.hp2 HG03195.hp2 HG03209.hp1 HG03688.hp1 HG03710.hp1 HG04184.hp2 NA18906.hp2 NA18942.hp1 NA18945.hp2 NA18950.hp2 NA18977.hp1 NA18998.hp2 NA19003.hp1 NA19011.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0017 a0001c0001t0020 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0043 a0001c0001t0056 a0001c0001t0084 a0001c0002t0003 a0001c0002t0009 a0001c0002t0022 a0001c0002t0060 a0001c0002t0063 a0001c0002t0070 a0001c0002t0071 a0002c0003t0001 a0002c0003t0004 a0002c0003t0006	a0001c0001t0001g0022 a0001c0001t0001g0070 a0001c0001t0001g0090 others(30): Show a0001c0001t0001g0022 a0001c0001t0001g0070 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0002g0007 a0001c0001t0002g0067 a0001c0001t0002g0100 a0001c0001t0002g0106 a0001c0001t0004g0056 a0001c0001t0005g0014 a0001c0001t0010g0098 a0001c0001t0017g0105 a0001c0001t0020g0029 a0001c0001t0020g0097 a0001c0001t0027g0023 a0001c0001t0028g0028 a0001c0001t0030g0091 a0001c0001t0043g0030 a0001c0001t0056g0125 a0001c0001t0084g0188 a0001c0002t0003g0128 a0001c0002t0003g0152 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0009g0177 a0001c0002t0022g0134 a0001c0002t0060g0136 a0001c0002t0063g0127 a0001c0002t0070g0137 a0001c0002t0071g0173 a0002c0003t0001g0095 a0002c0003t0004g0035 a0002c0003t0006g0081	33	188	0.1755	-72	c.190 others(91): Show c.190-45345_190-45274delGTATACTCATATATATACACATATAT ACTCATATATATACACATATATATACTCACATATATACACATATAT	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLIN5_chr19_4517531_4540224	4525837	AGGACAGG others(65): Show AGGACAGGATACGGGGACAGCACGGGGACAGGATACGGGGACAGCACGGG GACAGGATACGGGGACAGCACGG	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG03453.hp2 HG01109.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0164 a0001c0001t0001g0167	2	412	0.0049	-72	c.521 others(84): Show c.521-77_521-6delCCGTGCTGTCCCCGTATCCTGTCCCCGTGCTGT CCCCGTATCCTGTCCCCGTGCTGTCCCCGTATCCTGTCC	PLIN5	ENSG00000214456.8	transcript	ENST00000381848.7	protein_coding	5/7			chr19	TogoVar
PNPLA7_chr9_137454952_137555402	137472007	TCACTAAG others(65): Show TCACTAAGGATAGAGAAACACACCAGTGGAACCCAGCAAGGTCCAGATGG GCTCACACCTGCAGGGCCACTGG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp2 HG02647.hp1 others(6): Show HG02559.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02897.hp1 HG03209.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2	a0001 a0004 a0010 others(1): Show a0001 a0004 a0010 a0022	a0001c0002 a0004c0007 a0004c0054 others(2): Show a0001c0002 a0004c0007 a0004c0054 a0010c0013 a0022c0053	a0001c0002t0005 a0004c0007t0002 a0004c0054t0002 others(2): Show a0001c0002t0005 a0004c0007t0002 a0004c0054t0002 a0010c0013t0002 a0022c0053t0001	a0001c0002t0005g0187 a0004c0007t0002g0018 a0004c0007t0002g0019 others(6): Show a0001c0002t0005g0187 a0004c0007t0002g0018 a0004c0007t0002g0019 a0004c0007t0002g0181 a0004c0007t0002g0182 a0004c0054t0002g0132 a0010c0013t0002g0164 a0010c0013t0002g0165 a0022c0053t0001g0154	9	188	0.0479	-72	c.288 others(91): Show c.2883-4606_2883-4535delCCAGTGGCCCTGCAGGTGTGAGCCCA TCTGGACCTTGCTGGGTTCCACTGGTGTGTTTCTCTATCCTTAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	25/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137551654	CCGCCCCG others(65): Show CCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCG CGAGCCCCGCCCCGCGAGCCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	188	0.0053	-72	c.-15 others(83): Show c.-1529_-1458delCGGGGCTCGCGGGGCGGGGCTCGCGGGGCGGGGC TCGCGGGGCGGGGCTCGCGGGGCGGGGCTCGCGGGGCG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding		1253		chr9	TogoVar
POLG_chr15_89311320_89339824	89325043	AGTGAGTG others(65): Show AGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAG TGAGTGAGAGAGTGAGAGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	398	0.0025	-72	c.194 others(89): Show c.1949+335_1949+406delACTCTCTCTCACTCTCTCACTCACTCAC TCTCTCACTCACTCACTCACTCACTCACTCTCTCACTCACTCAC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POTEG_chr14_19397486_19439341	19434988	CGCGTGCG others(65): Show CGCGTGCGGCGTGCGCGTGCGGCGTGCGCGTGCGGCGTGCGCGTGCGGCG TGCGCGTGCGGCGTGCGCGTGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02145.hp2 HG02132.hp2 HG02145.hp2	a0019 a0037 a0019 a0037	a0019c0018 a0037c0016 a0019c0018 a0037c0016	a0019c0018t0008 a0037c0016t0001 a0019c0018t0008 a0037c0016t0001	a0019c0018t0008g0030 a0037c0016t0001g0028 a0019c0018t0008g0030 a0037c0016t0001g0028	2	111	0.0180	-72	c.-77 others(81): Show c.-771_-700delCGCACGCGCACGCCGCACGCGCACGCCGCACGCGCA CGCCGCACGCGCACGCCGCACGCGCACGCCGCACGC	POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding		648		chr14	TogoVar
POTEM_chr14_18962434_19008752	18969283	ACACATGT others(65): Show ACACATGTATATATATGTATATACGTATATATATGTATATATATATATAT ACGTATATACATATATATACATG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0008 a0010c0015t0008	a0010c0015t0008g0005 a0010c0015t0008g0005	1	67	0.0149	-72	c.521 others(89): Show c.521+1278_521+1349delCACATGTATATATATGTATATACGTATA TATATGTATATATATATATATACGTATATACATATATATACATG	POTEM	ENSG00000222036.8	transcript	ENST00000547889.6	protein_coding	1/10			chr14	TogoVar
PPARGC1B_chr5_149725310_149860022	149768548	ATTCTGCC others(65): Show ATTCTGCCACCTCAGCCTCCTGAGTAGCTGAGACTATAAGTGCCCACCAC CACGTCTGGCTAATTTTTGTATT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp2 HG03225.hp2 others(3): Show HG02451.hp1 HG03041.hp2 HG03225.hp2 HG03453.hp2 HG06807.hp2 NA18906.hp1	a0001 a0007 a0015 others(1): Show a0001 a0007 a0015 a0016	a0001c0006 a0001c0030 a0007c0019 others(2): Show a0001c0006 a0001c0030 a0007c0019 a0015c0027 a0016c0025	a0001c0006t0001 a0001c0030t0031 a0007c0019t0017 others(2): Show a0001c0006t0001 a0001c0030t0031 a0007c0019t0017 a0015c0027t0037 a0016c0025t0031	a0001c0006t0001g0316 a0001c0030t0031g0320 a0007c0019t0017g0314 others(3): Show a0001c0006t0001g0316 a0001c0030t0031g0320 a0007c0019t0017g0314 a0007c0019t0017g0315 a0015c0027t0037g0318 a0016c0025t0031g0043	6	320	0.0188	-72	c.78+ others(89): Show c.78+38164_78+38235delTAAGTGCCCACCACCACGTCTGGCTAAT TTTTGTATTTTCTGCCACCTCAGCCTCCTGAGTAGCTGAGACTA	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149768602	TCTGGCTA others(65): Show TCTGGCTAATTTTTGTATTTTCTGCCACCTCAGCCTCCTGAGTAGCTGAG ACTACAGGCGCCCACCACCATGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00639.hp1 others(35): Show HG00140.hp1 HG00140.hp2 HG00639.hp1 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01168.hp2 HG01255.hp1 HG01433.hp1 HG01496.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02148.hp2 HG02273.hp2 HG02293.hp1 HG02683.hp1 HG02735.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG04184.hp2 NA18943.hp2 NA18955.hp2 NA18962.hp2 NA18964.hp1 NA18974.hp2 NA19000.hp1 NA19004.hp1 NA19055.hp2 NA19081.hp1 NA19088.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0020 a0001c0004t0006 a0002c0002t0010 a0002c0002t0025 a0003c0003t0004 a0003c0003t0011 a0003c0003t0033 a0003c0003t0035 a0004c0005t0013	a0001c0001t0001g0271 a0001c0001t0001g0285 a0001c0001t0002g0274 others(35): Show a0001c0001t0001g0271 a0001c0001t0001g0285 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0308 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0015g0282 a0001c0001t0015g0300 a0001c0001t0020g0299 a0001c0004t0006g0277 a0002c0002t0010g0204 a0002c0002t0010g0304 a0002c0002t0025g0287 a0003c0003t0004g0281 a0003c0003t0004g0288 a0003c0003t0004g0289 a0003c0003t0004g0290 a0003c0003t0004g0291 a0003c0003t0004g0293 a0003c0003t0004g0294 a0003c0003t0004g0295 a0003c0003t0004g0296 a0003c0003t0004g0305 a0003c0003t0004g0306 a0003c0003t0004g0309 a0003c0003t0011g0279 a0003c0003t0011g0301 a0003c0003t0011g0302 a0003c0003t0011g0303 a0003c0003t0033g0292 a0003c0003t0035g0297 a0004c0005t0013g0298	38	320	0.1188	-72	c.78+ others(89): Show c.78+38204_78+38275delTGCCACCTCAGCCTCCTGAGTAGCTGAG ACTACAGGCGCCCACCACCATGCCTGGCTAATTTTTGTATTTTC	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPP1R12C_chr19_55085918_55122637	55094218	CCCCAGCC others(65): Show CCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGGCCCCCAGCCCCTCC TCCCTCAGACCCAGGAGTCCAGG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02809.hp1 HG01243.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0100 a0001c0003t0003g0079 a0001c0003t0001g0100 a0001c0003t0003g0079	2	390	0.0051	-72	c.168 others(88): Show c.1683+55_1683+126delCCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGGGGCCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGG	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	13/21			chr19	TogoVar
PPP2R2C_chr4_6315581_6477614	6329569	GACCGTGA others(65): Show GACCGTGACACAGCCCAATACAGCCCTGCTCATCTTATCGGGGGGCCCAC GACCAGGCACACGGCTGACCTCC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp1 HG01243.hp1 others(41): Show HG01109.hp2 HG01175.hp1 HG01243.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 others(20): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 a0001c0001t0019 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0023 a0001c0002t0036 a0001c0002t0038 a0001c0002t0039 a0001c0002t0042 a0001c0003t0003 a0001c0003t0005 a0001c0003t0010 a0001c0003t0011 a0001c0003t0012 a0001c0003t0047 a0001c0004t0016 a0001c0006t0008	a0001c0001t0002g0020 a0001c0001t0002g0038 a0001c0001t0002g0042 others(41): Show a0001c0001t0002g0020 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0141 a0001c0001t0002g0197 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0009g0014 a0001c0001t0009g0021 a0001c0001t0009g0062 a0001c0001t0016g0247 a0001c0001t0019g0200 a0001c0001t0019g0216 a0001c0002t0005g0041 a0001c0002t0005g0184 a0001c0002t0008g0199 a0001c0002t0008g0241 a0001c0002t0010g0064 a0001c0002t0010g0180 a0001c0002t0010g0211 a0001c0002t0010g0236 a0001c0002t0011g0017 a0001c0002t0011g0152 a0001c0002t0011g0189 a0001c0002t0012g0019 a0001c0002t0012g0128 a0001c0002t0012g0193 a0001c0002t0013g0170 a0001c0002t0013g0215 a0001c0002t0023g0039 a0001c0002t0023g0067 a0001c0002t0036g0179 a0001c0002t0038g0185 a0001c0002t0039g0196 a0001c0002t0042g0243 a0001c0003t0003g0052 a0001c0003t0005g0059 a0001c0003t0010g0066 a0001c0003t0011g0210 a0001c0003t0012g0035 a0001c0003t0047g0263 a0001c0004t0016g0242 a0001c0006t0008g0063	44	298	0.1477	-72	c.961 others(87): Show c.961-288_961-217delGGAGGTCAGCCGTGTGCCTGGTCGTGGGCC CCCCGATAAGATGAGCAGGGCTGTATTGGGCTGTGTCACGGT	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	7/8			chr4	TogoVar
PPP6R2_chr22_50338327_50450090	50397908	GCCTGTCC others(65): Show GCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTG ACTTGGGATGGGGGCAGGGGGGC	G G	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19090.hp1 NA19064.hp1 NA19090.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0020 a0008c0012t0020	a0008c0012t0020g0078 a0008c0012t0020g0079 a0008c0012t0020g0078 a0008c0012t0020g0079	2	340	0.0059	-72	c.227 others(89): Show c.227+3775_227+3846delCTGTCCTCACCAGCCTTGTCATCTCTGA GCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRAME_chr22_22542701_22564265	22557968	AAGACAGG others(65): Show AAGACAGGGTGGGGGAGGGGTGGGCATGGGGGAAGGAAGACAGGGTGGGG GAGGGGTGGGCATGGGGAAAGGG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18995.hp1 HG03209.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0129 a0001c0001t0002g0079 a0001c0001t0001g0129 a0001c0001t0002g0079	2	399	0.0050	-72	c.-11 others(89): Show c.-113-460_-113-389delCCCTTTCCCCATGCCCACCCCTCCCCCA CCCTGTCTTCCTTCCCCCATGCCCACCCCTCCCCCACCCTGTCT	PRAME	ENSG00000185686.18	transcript	ENST00000405655.8	protein_coding	1/5			chr22	TogoVar
PRAME_chr22_22542701_22564265	22558004	AAGACAGG others(65): Show AAGACAGGGTGGGGGAGGGGTGGGCATGGGGAAAGGGAGACAGGGTGGGG GAGGGGTGGGCATGGGGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	399	0.0025	-72	c.-11 others(89): Show c.-113-496_-113-425delCCCTTCCCCCATGCCCACCCCTCCCCCA CCCTGTCTCCCTTTCCCCATGCCCACCCCTCCCCCACCCTGTCT	PRAME	ENSG00000185686.18	transcript	ENST00000405655.8	protein_coding	1/5			chr22	TogoVar
PRDM16_chr1_3064203_3443621	3165264	GGGATGCA others(65): Show GGGATGCACTTGGCCTTAGGGGCATGGACTCACCTGGGCTCAGGGACAGG GTTGCACTTGGCCTCAGGGGCAT	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0130 a0001c0004t0010g0130	1	210	0.0048	-72	c.38- others(89): Show c.38-20857_38-20786delTGCACTTGGCCTTAGGGGCATGGACTCA CCTGGGCTCAGGGACAGGGTTGCACTTGGCCTCAGGGGCATGGA	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3165740	GACAGTGA others(65): Show GACAGTGACTCACCTGGGCCCAGGGACAGGGACTCACCAGGGCTCAGGGA CAGGGACTCACCAGGGCTCAGGC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01123.hp2 HG02055.hp1 others(5): Show HG01109.hp1 HG01123.hp2 HG02055.hp1 HG02809.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0004 a0001c0017 others(3): Show a0001c0001 a0001c0004 a0001c0017 a0002c0003 a0002c0007 a0007c0024	a0001c0001t0012 a0001c0001t0077 a0001c0004t0025 others(5): Show a0001c0001t0012 a0001c0001t0077 a0001c0004t0025 a0001c0017t0054 a0002c0003t0004 a0002c0003t0007 a0002c0007t0001 a0007c0024t0007	a0001c0001t0012g0129 a0001c0001t0077g0036 a0001c0004t0025g0205 others(5): Show a0001c0001t0012g0129 a0001c0001t0077g0036 a0001c0004t0025g0205 a0001c0017t0054g0134 a0002c0003t0004g0068 a0002c0003t0007g0103 a0002c0007t0001g0001 a0007c0024t0007g0173	8	210	0.0381	-72	c.38- others(89): Show c.38-20380_38-20309delTGACTCACCTGGGCCCAGGGACAGGGAC TCACCAGGGCTCAGGGACAGGGACTCACCAGGGCTCAGGCACAG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3165745	TGACTCAC others(65): Show TGACTCACCTGGGCCCAGGGACAGGGACTCACCAGGGCTCAGGGACAGGG ACTCACCAGGGCTCAGGCACAGG	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0170 a0001c0001t0076g0170	1	210	0.0048	-72	c.38- others(89): Show c.38-20366_38-20295delCCAGGGACAGGGACTCACCAGGGCTCAG GGACAGGGACTCACCAGGGCTCAGGCACAGGGACTCACCTGGGC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRIMPOL_chr4_184644738_184699952	184697354	TCAATTGA others(65): Show TCAATTGAGATTTATACACAGAATAAAAACTTCCCTTGATGAAATTCAGC TGTCCGAGTGAAAATACCTTACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG02109.hp2 HG00741.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0149 a0001c0001t0001g0156	2	328	0.0061	-72	c.25 others(83): Show c.2576_*2647delCAATTGAGATTTATACACAGAATAAAAACTTCCC TTGATGAAATTCAGCTGTCCGAGTGAAAATACCTTACA	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding		2403		chr4	TogoVar
PRKAG2_chr7_151551127_151882115	151855402	ACCACCCT others(65): Show ACCACCCTCCACATACACCATGCTCCACACACACCGCCCTCCACACACAC CATCCTCCACACACACCATGCTC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01168.hp2 HG01952.hp1 others(14): Show HG00323.hp2 HG01168.hp2 HG01952.hp1 HG02015.hp1 HG02109.hp1 HG02698.hp2 HG03017.hp2 HG03239.hp1 HG03710.hp2 NA18954.hp2 NA18964.hp1 NA18990.hp2 NA18998.hp2 NA19007.hp2 NA19057.hp2 NA19060.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0013 a0001c0001t0001g0049 a0001c0001t0001g0072 others(14): Show a0001c0001t0001g0013 a0001c0001t0001g0049 a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0113 a0001c0001t0002g0058 a0001c0001t0002g0078 a0001c0001t0002g0083 a0001c0001t0002g0094 a0001c0001t0002g0164 a0001c0001t0003g0111 a0001c0001t0003g0137 a0001c0001t0003g0169 a0001c0001t0004g0214 a0001c0001t0004g0226	17	252	0.0675	-72	c.114 others(91): Show c.114+21033_114+21104delGAGCATGGTGTGTGTGGAGGATGGTG TGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTATGTGGAGGGTGG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKAG2_chr7_151551127_151882115	151874303	TATGTATA others(65): Show TATGTATATGTATATGATGTATATGTATATGATGTATATGTATATGTATA TGATGTATATGTATATGTATATG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0178 a0001c0001t0003g0178	1	252	0.0040	-72	c.114 others(89): Show c.114+2132_114+2203delCATATACATATACATATACATCATATAC ATATACATATACATCATATACATATACATCATATACATATACAT	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCA_chr17_66297613_66815743	66798468	TGGTGGTG others(65): Show TGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGACGGTGGTG ACGGTGGTGGTGATGGTGGTGAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0153 a0001c0001t0071g0153	1	178	0.0056	-72	c.185 others(91): Show c.1855-5391_1855-5320delGTGGTGACGGTGGTGGTGGTGGTGGT GACGGTGGTGACGGTGGTGGTGATGGTGGTGACGGTGGTGGTGGTG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799468	GATGGTGG others(65): Show GATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAA TGGTGGTGGTGATGGTGGTGGTA	G G	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0081 a0001c0001t0030g0081	1	178	0.0056	-72	c.185 others(91): Show c.1855-4404_1855-4333delATGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGGTGGTGGTA	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16			chr17	TogoVar

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