Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PAFAH1B2_chr11_117139287_117176045	117172366	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02818.hp2 HG03098.hp1 others(2): Show HG02622.hp1 HG02818.hp2 HG03098.hp1 HG03130.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0025 a0001c0001t0018 a0001c0001t0025	a0001c0001t0018g0030 a0001c0001t0018g0116 a0001c0001t0018g0119 others(2): Show a0001c0001t0018g0030 a0001c0001t0018g0116 a0001c0001t0018g0119 a0001c0001t0025g0030 a0001c0001t0025g0117	5	427	0.0117	-47	c.46 others(58): Show c.4668_*4714delTATATATATATATATATATATATATATATATATA TATATTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1322		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172372	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00738.hp2 others(18): Show HG00099.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01123.hp1 HG01256.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01993.hp2 HG02630.hp2 HG02735.hp2 HG02818.hp1 HG03453.hp1 HG03471.hp2 HG03688.hp1 NA18966.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0042 a0001c0001t0002 a0001c0001t0003 a0001c0001t0042	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0043 others(15): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0043 a0001c0001t0002g0227 a0001c0001t0002g0263 a0001c0001t0002g0271 a0001c0001t0002g0278 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0232 a0001c0001t0003g0243 a0001c0001t0003g0247 a0001c0001t0003g0250 a0001c0001t0003g0260 a0001c0001t0042g0003	21	354	0.0593	-47	c.46 others(58): Show c.4674_*4720delTATATATATATATATATATATATATATATATATT TTTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1328		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172374	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00733.hp2 others(15): Show HG00323.hp1 HG00408.hp2 HG00733.hp2 HG01106.hp1 HG01169.hp1 HG01175.hp1 HG01361.hp2 HG01433.hp1 HG02071.hp1 HG02300.hp2 HG02738.hp1 HG03540.hp1 HG03834.hp2 NA18947.hp2 NA18950.hp2 NA18981.hp1 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0050 a0001c0001t0062	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0015 others(11): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0038 a0001c0001t0002g0236 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0234 a0001c0001t0003g0252 a0001c0001t0012g0002 a0001c0001t0012g0003 a0001c0001t0012g0287 a0001c0001t0050g0039 a0001c0001t0062g0259	18	362	0.0497	-47	c.46 others(58): Show c.4676_*4722delTATATATATATATATATATATATATATATATTTT TTTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1330		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172376	ATATATAT others(40): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG03225.hp1 NA19012.hp1 others(3): Show HG02630.hp1 HG03225.hp1 NA19012.hp1 NA19012.hp2 NA19084.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013	a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0006g0070 others(3): Show a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0006g0070 a0001c0001t0009g0007 a0001c0001t0013g0062 a0001c0001t0013g0084	6	406	0.0148	-47	c.46 others(58): Show c.4678_*4724delTATATATATATATATATATATATATATATTTTTT TTTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1332		chr11	TogoVar
PALMD_chr1_99641113_99699535	99683103	AAAGAAAG others(40): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02723.hp2 HG03017.hp1 HG01167.hp2 HG02723.hp2 HG03017.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0009 a0001c0002 a0005c0009	a0001c0002t0001 a0001c0002t0002 a0005c0009t0001 a0001c0002t0001 a0001c0002t0002 a0005c0009t0001	a0001c0002t0001g0237 a0001c0002t0002g0274 a0005c0009t0001g0028 a0001c0002t0001g0237 a0001c0002t0002g0274 a0005c0009t0001g0028	3	377	0.0080	-47	c.252 others(64): Show c.252-3570_252-3524delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PANK3_chr5_168543495_168584368	168553123	ACACTTTA others(40): Show ACACTTTATAGGACAGCTGGAAGGATGGTAAAGCCCAGTATCACTGGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG02486.hp1 HG02572.hp1 others(8): Show HG01243.hp1 HG02486.hp1 HG02572.hp1 HG02818.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03540.hp1 HG03540.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0050 a0001c0001t0008 a0001c0001t0050	a0001c0001t0008g0045 a0001c0001t0008g0046 a0001c0001t0008g0047 others(8): Show a0001c0001t0008g0045 a0001c0001t0008g0046 a0001c0001t0008g0047 a0001c0001t0008g0048 a0001c0001t0008g0086 a0001c0001t0008g0087 a0001c0001t0008g0088 a0001c0001t0008g0090 a0001c0001t0008g0092 a0001c0001t0008g0093 a0001c0001t0050g0094	11	414	0.0266	-47	c.44 others(58): Show c.4401_*4447delCCCAGTGATACTGGGCTTTACCATCCTTCCAGCT GTCCTATAAAGTG	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	7/7	4401		chr5	TogoVar
PAPPA_chr9_116148791_116407321	116289139	TATATATA others(40): Show TATATATATATATATATATATAGCATATATATATAGCATATATGTAGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00544.hp2 others(50): Show HG00099.hp1 HG00099.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG01192.hp1 HG01496.hp2 HG01891.hp1 HG01978.hp1 HG02055.hp1 HG02071.hp1 HG02135.hp1 HG02257.hp2 HG02273.hp2 HG02523.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG03017.hp1 HG03130.hp1 HG03225.hp1 HG03490.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp2 NA18963.hp2 NA18972.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18995.hp1 NA19002.hp1 NA19003.hp1 NA19009.hp2 NA19060.hp1 NA19060.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0007 a0009 a0014 a0016 a0019	a0001c0001 a0001c0002 a0001c0005 others(16): Show a0001c0001 a0001c0002 a0001c0005 a0001c0031 a0001c0032 a0002c0003 a0002c0004 a0002c0006 a0002c0009 a0002c0019 a0002c0029 a0003c0021 a0003c0023 a0004c0027 a0007c0051 a0009c0052 a0014c0042 a0016c0048 a0019c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0023 a0001c0001t0038 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0039 a0001c0002t0041 a0001c0002t0064 a0001c0005t0001 a0001c0005t0003 a0001c0031t0005 a0001c0032t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0005 a0002c0003t0006 a0002c0003t0056 a0002c0003t0061 a0002c0004t0009 a0002c0004t0013 a0002c0006t0001 a0002c0009t0001 a0002c0019t0002 a0002c0029t0003 a0003c0021t0007 a0003c0023t0025 a0004c0027t0002 a0007c0051t0009 a0009c0052t0010 a0014c0042t0002 a0016c0048t0023 a0019c0041t0016	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0154 others(50): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0154 a0001c0001t0001g0175 a0001c0001t0001g0213 a0001c0001t0002g0153 a0001c0001t0003g0043 a0001c0001t0003g0048 a0001c0001t0003g0149 a0001c0001t0005g0123 a0001c0001t0005g0145 a0001c0001t0011g0049 a0001c0001t0023g0210 a0001c0001t0038g0189 a0001c0002t0004g0060 a0001c0002t0004g0080 a0001c0002t0004g0128 a0001c0002t0007g0117 a0001c0002t0008g0158 a0001c0002t0008g0174 a0001c0002t0009g0216 a0001c0002t0010g0120 a0001c0002t0039g0176 a0001c0002t0041g0047 a0001c0002t0064g0225 a0001c0005t0001g0092 a0001c0005t0003g0093 a0001c0031t0005g0190 a0001c0032t0001g0061 a0002c0003t0001g0180 a0002c0003t0003g0041 a0002c0003t0003g0107 a0002c0003t0003g0166 a0002c0003t0003g0218 a0002c0003t0005g0084 a0002c0003t0005g0191 a0002c0003t0006g0143 a0002c0003t0056g0006 a0002c0003t0061g0037 a0002c0004t0009g0114 a0002c0004t0013g0163 a0002c0006t0001g0171 a0002c0009t0001g0088 a0002c0019t0002g0125 a0002c0029t0003g0139 a0003c0021t0007g0130 a0003c0023t0025g0089 a0004c0027t0002g0224 a0007c0051t0009g0014 a0009c0052t0010g0106 a0014c0042t0002g0021 a0016c0048t0023g0155 a0019c0041t0016g0022	53	232	0.2284	-47	c.295 others(68): Show c.2954-13608_2954-13562delTATATATATATAGCATATATATAT AGCATATATGTAGCATATATATA	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PARVB_chr22_44019302_44177939	44069901	TTCCCCTG others(40): Show TTCCCCTGGTCACCACTAGATATTCTGTCTTGTCTTTGGGAGGCAGAG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0046 a0008c0022t0046	a0008c0022t0046g0123 a0008c0022t0046g0123	1	330	0.0030	-47	c.113 others(66): Show c.113-24024_113-23978delCCCTGGTCACCACTAGATATTCTGTC TTGTCTTTGGGAGGCAGAGTC	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44127742	ATTGCCCA others(40): Show ATTGCCCAGAGTGAACCAGCAGGACCCCTGAGGAGTCCCTCTTCTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(156): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01069.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03471.hp2 HG03490.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp2 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19057.hp1 NA19057.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009 a0011 a0012	a0001c0001 a0001c0002 a0001c0004 others(15): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0001c0019 a0001c0024 a0002c0003 a0002c0030 a0002c0031 a0003c0006 a0003c0034 a0004c0009 a0006c0032 a0007c0021 a0009c0017 a0011c0026 a0012c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(72): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0040 a0001c0001t0049 a0001c0001t0051 a0001c0001t0053 a0001c0001t0057 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0070 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0022 a0001c0002t0026 a0001c0002t0041 a0001c0002t0061 a0001c0002t0062 a0001c0002t0066 a0001c0002t0068 a0001c0004t0001 a0001c0004t0006 a0001c0004t0069 a0001c0005t0001 a0001c0005t0005 a0001c0005t0008 a0001c0005t0009 a0001c0005t0018 a0001c0005t0045 a0001c0008t0047 a0001c0019t0013 a0001c0024t0001 a0002c0003t0001 a0002c0003t0004 a0002c0003t0005 a0002c0003t0006 a0002c0003t0014 a0002c0003t0054 a0002c0030t0001 a0002c0031t0002 a0003c0006t0004 a0003c0006t0008 a0003c0006t0058 a0003c0034t0034 a0004c0009t0001 a0004c0009t0007 a0006c0032t0048 a0007c0021t0010 a0009c0017t0001 a0011c0026t0001 a0012c0010t0029	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(156): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0069 a0001c0001t0001g0111 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0220 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0312 a0001c0001t0002g0014 a0001c0001t0002g0042 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0171 a0001c0001t0002g0211 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0229 a0001c0001t0002g0257 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0003g0006 a0001c0001t0003g0064 a0001c0001t0003g0217 a0001c0001t0003g0230 a0001c0001t0003g0233 a0001c0001t0003g0241 a0001c0001t0003g0252 a0001c0001t0003g0271 a0001c0001t0003g0293 a0001c0001t0003g0300 a0001c0001t0004g0196 a0001c0001t0005g0080 a0001c0001t0005g0112 a0001c0001t0005g0170 a0001c0001t0006g0058 a0001c0001t0006g0245 a0001c0001t0006g0269 a0001c0001t0006g0306 a0001c0001t0007g0008 a0001c0001t0007g0215 a0001c0001t0007g0221 a0001c0001t0007g0238 a0001c0001t0007g0254 a0001c0001t0007g0265 a0001c0001t0007g0292 a0001c0001t0007g0302 a0001c0001t0008g0149 a0001c0001t0009g0100 a0001c0001t0010g0296 a0001c0001t0015g0027 a0001c0001t0015g0294 a0001c0001t0019g0318 a0001c0001t0019g0320 a0001c0001t0022g0205 a0001c0001t0023g0109 a0001c0001t0024g0181 a0001c0001t0040g0186 a0001c0001t0049g0308 a0001c0001t0051g0218 a0001c0001t0053g0210 a0001c0001t0057g0119 a0001c0001t0064g0307 a0001c0001t0065g0015 a0001c0001t0067g0033 a0001c0001t0070g0225 a0001c0002t0001g0010 a0001c0002t0001g0039 a0001c0002t0001g0053 a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0001g0223 a0001c0002t0001g0263 a0001c0002t0001g0299 a0001c0002t0002g0138 a0001c0002t0003g0153 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0004g0165 a0001c0002t0004g0173 a0001c0002t0004g0232 a0001c0002t0005g0176 a0001c0002t0006g0155 a0001c0002t0007g0005 a0001c0002t0010g0066 a0001c0002t0011g0108 a0001c0002t0012g0089 a0001c0002t0013g0327 a0001c0002t0014g0278 a0001c0002t0015g0054 a0001c0002t0022g0202 a0001c0002t0026g0332 a0001c0002t0041g0189 a0001c0002t0061g0018 a0001c0002t0062g0167 a0001c0002t0066g0280 a0001c0002t0068g0077 a0001c0004t0001g0062 a0001c0004t0001g0289 a0001c0004t0006g0152 a0001c0004t0069g0213 a0001c0005t0001g0190 a0001c0005t0005g0131 a0001c0005t0008g0075 a0001c0005t0009g0072 a0001c0005t0018g0093 a0001c0005t0045g0084 a0001c0008t0047g0323 a0001c0019t0013g0060 a0001c0024t0001g0029 a0002c0003t0001g0051 a0002c0003t0001g0214 a0002c0003t0001g0240 a0002c0003t0004g0281 a0002c0003t0005g0031 a0002c0003t0006g0024 a0002c0003t0014g0242 a0002c0003t0054g0020 a0002c0030t0001g0286 a0002c0031t0002g0036 a0003c0006t0004g0106 a0003c0006t0008g0107 a0003c0006t0058g0105 a0003c0034t0034g0324 a0004c0009t0001g0258 a0004c0009t0007g0212 a0006c0032t0048g0159 a0007c0021t0010g0301 a0009c0017t0001g0182 a0011c0026t0001g0277 a0012c0010t0029g0179	159	315	0.5048	-47	c.377 others(64): Show c.377-3742_377-3696delGCCCAGAGTGAACCAGCAGGACCCCTGA GGAGTCCCTCTTCTTTTTT	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PAWR_chr12_79579879_79695964	79613945	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0083 a0001c0003t0028g0083	1	243	0.0041	-47	c.649 others(62): Show c.649-383_649-337delAAAAAAAAAAAAATATATATATATATATAT ATATATATATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79632304	TATACATA others(40): Show TATACATACATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0218 a0002c0002t0001g0218	1	246	0.0041	-47	c.517 others(66): Show c.517-11144_517-11098delTATATATATATATATATATATATATA TATATATATATATGTATGTAT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAX7_chr1_18625846_18753866	18722005	TGTGCCTC others(40): Show TGTGCCTCCATTTGCTCATCTATCAAATGTGGATGACACAGGGTTAGA	T T	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	300	0.0033	-47	c.115 others(68): Show c.1156-13626_1156-13580delGTGCCTCCATTTGCTCATCTATCA AATGTGGATGACACAGGGTTAGA	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	7/8			chr1	TogoVar
PBLD_chr10_68277660_68337928	68279653	GCAGCCGC others(40): Show GCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGACAGCCCCCGCCCGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0097 a0001c0001t0010g0097	1	362	0.0028	-47	c.44 others(58): Show c.4477_*4523delGCCGGGCGGGGGCTGTCCCCCCACCTCCCTCCCG GACGGGGCGGCTG	PBLD	ENSG00000108187.16	transcript	ENST00000358769.7	protein_coding		3006		chr10	TogoVar
PCBP3_chr21_45638725_45947450	45815414	TGATGAGT others(40): Show TGATGAGTGAGTGGTGAGTGGTGAGTCAGTGGTGAGTGGTGAGTGGTG	T T	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	290	0.0034	-47	c.-12 others(68): Show c.-125-34546_-125-34500delGATGAGTGAGTGGTGAGTGGTGAG TCAGTGGTGAGTGGTGAGTGGTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17			chr21	TogoVar
PCGF3_chr4_700832_775089	731554	CCCCCTCC others(40): Show CCCCCTCCCGTCGTGGGTGGGCGTGGTCCTCGGGCATAGGGCGGGGCT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG02074.hp1 others(5): Show HG00544.hp1 HG00609.hp1 HG02074.hp1 HG02165.hp1 NA18948.hp1 NA18962.hp2 NA18971.hp2 NA19007.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0008 a0001c0001 a0002c0002 a0003c0008	a0001c0001t0001 a0002c0002t0003 a0002c0002t0007 others(2): Show a0001c0001t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0048 a0003c0008t0001	a0001c0001t0001g0023 a0001c0001t0001g0026 a0002c0002t0003g0013 others(5): Show a0001c0001t0001g0023 a0001c0001t0001g0026 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0024 a0002c0002t0007g0025 a0002c0002t0048g0021 a0003c0008t0001g0022	8	363	0.0220	-47	c.-10 others(62): Show c.-10+453_-10+499delGTCGTGGGTGGGCGTGGTCCTCGGGCATAG GGCGGGGCTCCCCTCCC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCMT1_chr6_149744741_149816419	149786370	CCCCCCCA others(40): Show CCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03490.hp2 HG03942.hp1 others(6): Show HG02698.hp1 HG03490.hp2 HG03942.hp1 NA18955.hp1 NA18984.hp2 NA19003.hp1 NA19010.hp1 NA19088.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0042 a0002c0002t0002g0073 a0002c0002t0002g0074 others(6): Show a0002c0002t0002g0042 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0110 a0002c0002t0003g0029 a0002c0002t0003g0030	9	332	0.0271	-47	c.193 others(64): Show c.193-3552_193-3506delGCCGGGCGGGGGCTGACCCCCCACCTCC CTCCCGGACGGGGTGGCTG	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PCSK6_chr15_101298933_101494707	101426740	CGGCTGCA others(40): Show CGGCTGCAGCCACCCTCACCAAGGCTCGGTGGCAGAACGGCAGAAAGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(91): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01433.hp1 HG01516.hp1 HG01981.hp2 HG02004.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02970.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18967.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18991.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19011.hp2 NA19012.hp1 NA19065.hp1 NA19067.hp2 NA19074.hp2 NA19081.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011 a0013 a0016 a0018	a0001c0001 a0001c0002 a0001c0003 others(26): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0028 a0001c0038 a0001c0061 a0002c0008 a0002c0016 a0002c0031 a0002c0032 a0002c0033 a0003c0015 a0003c0023 a0004c0027 a0005c0014 a0006c0020 a0011c0044 a0013c0043 a0016c0066 a0018c0073	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0012 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0007t0002 a0001c0007t0003 a0001c0009t0001 a0001c0009t0002 a0001c0010t0002 a0001c0010t0005 a0001c0011t0001 a0001c0012t0001 a0001c0012t0002 a0001c0013t0001 a0001c0028t0010 a0001c0038t0001 a0001c0061t0001 a0002c0008t0001 a0002c0008t0002 a0002c0016t0001 a0002c0031t0001 a0002c0032t0003 a0002c0033t0001 a0003c0015t0001 a0003c0023t0001 a0003c0023t0002 a0004c0027t0001 a0005c0014t0001 a0006c0020t0001 a0011c0044t0001 a0013c0043t0009 a0016c0066t0002 a0018c0073t0001	a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0182 others(91): Show a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0231 a0001c0001t0001g0246 a0001c0001t0001g0266 a0001c0001t0001g0286 a0001c0001t0002g0147 a0001c0001t0002g0161 a0001c0001t0002g0180 a0001c0001t0002g0237 a0001c0001t0002g0250 a0001c0001t0004g0152 a0001c0001t0005g0285 a0001c0001t0007g0172 a0001c0002t0001g0160 a0001c0002t0001g0174 a0001c0002t0001g0179 a0001c0002t0001g0194 a0001c0002t0001g0216 a0001c0002t0001g0226 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0275 a0001c0002t0001g0281 a0001c0002t0002g0229 a0001c0002t0002g0235 a0001c0003t0001g0053 a0001c0003t0001g0062 a0001c0003t0001g0075 a0001c0003t0001g0087 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0122 a0001c0003t0002g0054 a0001c0004t0001g0072 a0001c0004t0001g0082 a0001c0004t0001g0100 a0001c0004t0001g0128 a0001c0004t0001g0134 a0001c0004t0002g0046 a0001c0004t0002g0085 a0001c0004t0004g0131 a0001c0004t0012g0125 a0001c0005t0001g0261 a0001c0005t0001g0262 a0001c0005t0001g0299 a0001c0006t0001g0060 a0001c0006t0001g0098 a0001c0006t0001g0121 a0001c0007t0001g0065 a0001c0007t0001g0136 a0001c0007t0002g0088 a0001c0007t0003g0093 a0001c0009t0001g0196 a0001c0009t0001g0206 a0001c0009t0001g0232 a0001c0009t0001g0269 a0001c0009t0002g0234 a0001c0010t0002g0173 a0001c0010t0002g0218 a0001c0010t0005g0253 a0001c0011t0001g0230 a0001c0011t0001g0238 a0001c0011t0001g0267 a0001c0012t0001g0079 a0001c0012t0002g0124 a0001c0013t0001g0034 a0001c0013t0001g0138 a0001c0028t0010g0001 a0001c0038t0001g0137 a0001c0061t0001g0309 a0002c0008t0001g0023 a0002c0008t0002g0016 a0002c0016t0001g0010 a0002c0016t0001g0011 a0002c0016t0001g0012 a0002c0016t0001g0013 a0002c0031t0001g0008 a0002c0032t0003g0009 a0002c0033t0001g0029 a0003c0015t0001g0313 a0003c0023t0001g0311 a0003c0023t0002g0310 a0004c0027t0001g0330 a0005c0014t0001g0055 a0006c0020t0001g0005 a0011c0044t0001g0107 a0013c0043t0009g0036 a0016c0066t0002g0323 a0018c0073t0001g0336	94	331	0.2840	-47	c.823 others(64): Show c.823+1105_823+1151delACTTTCTGCCGTTCTGCCACCGAGCCTT GGTGAGGGTGGCTGCAGCC	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	6/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101426814	GGTGGCAG others(40): Show GGTGGCAGAACGGCAGAAAGCGGCTGCAGGCACCCTCACCAAGGCTCA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02922.hp2 HG02970.hp2 others(2): Show HG02109.hp1 HG02922.hp2 HG02970.hp2 HG03540.hp2 NA19030.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0019 a0005c0014 a0006c0029 a0001c0019 a0005c0014 a0006c0029	a0001c0019t0003 a0001c0019t0005 a0005c0014t0001 others(1): Show a0001c0019t0003 a0001c0019t0005 a0005c0014t0001 a0006c0029t0001	a0001c0019t0003g0304 a0001c0019t0005g0305 a0005c0014t0001g0064 others(2): Show a0001c0019t0003g0304 a0001c0019t0005g0305 a0005c0014t0001g0064 a0005c0014t0001g0101 a0006c0029t0001g0006	5	333	0.0150	-47	c.823 others(64): Show c.823+1031_823+1077delTGAGCCTTGGTGAGGGTGCCTGCAGCCG CTTTCTGCCGTTCTGCCAC	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	6/21			chr15	TogoVar
PDCD6_chr5_266646_319974	286691	CTGGAGAC others(40): Show CTGGAGACCTGGGGAGGAGCTGATGTTCCCGTTTGAGGGCCGTGCAGG	C C	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0301 a0002c0003t0001g0301	1	358	0.0028	-47	c.163 others(66): Show c.163+13946_163+13992delCCCGTTTGAGGGCCGTGCAGGTGGAG ACCTGGGGAGGAGCTGATGTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDE11A_chr2_177618244_178077777	177946687	GGGGGGTC others(40): Show GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0125 a0002c0004t0001g0125	1	168	0.0060	-47	c.107 others(68): Show c.1072-41547_1072-41501delACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCC	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDE9A_chr21_42648621_42780509	42756545	GCCTCCGA others(40): Show GCCTCCGAGGGCCCAGGGCTGTGGCCCGTGAGCGTGGCCTGCCTCTAT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG01243.hp2 others(30): Show HG01109.hp2 HG01167.hp1 HG01243.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01975.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0003t0002 a0001c0003t0003 a0001c0010t0001 a0002c0007t0001	a0001c0001t0001g0025 a0001c0001t0001g0137 a0001c0001t0001g0230 others(30): Show a0001c0001t0001g0025 a0001c0001t0001g0137 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0242 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0304 a0001c0001t0002g0009 a0001c0001t0002g0142 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0005g0022 a0001c0001t0006g0012 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0223 a0001c0002t0001g0308 a0001c0002t0002g0010 a0001c0002t0002g0013 a0001c0002t0005g0253 a0001c0002t0007g0011 a0001c0003t0002g0030 a0001c0003t0002g0107 a0001c0003t0003g0292 a0001c0010t0001g0225 a0002c0007t0001g0166 a0002c0007t0001g0307	33	322	0.1025	-47	c.811 others(64): Show c.811-2374_811-2328delGTGGCCTGCCTCTATCCTCCGAGGGCCC AGGGCTGTGGCCCGTGAGC	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDGFC_chr4_156755454_156976799	156759308	GCACCGAG others(40): Show GCACCGAGGGTAACCAAACCATAGTCAATGCACCTGGAGACAGGGATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	206	0.0049	-47	c.37 others(58): Show c.3735_*3781delTATCCCTGTCTCCAGGTGCATTGACTATGGTTTG GTTACCCTCGGTG	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding		1145		chr4	TogoVar
PDGFC_chr4_156755454_156976799	156760075	CATAGTCA others(40): Show CATAGTCAATGCACCTGGAGACAGGGATGCACCGAGGGTAACCAAACG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00639.hp2 HG01109.hp2 others(18): Show HG00621.hp1 HG00639.hp2 HG01109.hp2 HG01192.hp2 HG01934.hp1 HG02040.hp1 HG02622.hp1 HG02970.hp2 HG03139.hp1 HG03579.hp1 HG03654.hp1 HG03710.hp1 NA18906.hp2 NA18942.hp2 NA18957.hp1 NA18972.hp1 NA18998.hp2 NA19056.hp1 NA19066.hp2 NA19085.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0012 others(3): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0012 a0001c0002t0018 a0001c0002t0026 a0001c0002t0033	a0001c0002t0002g0007 a0001c0002t0002g0028 a0001c0002t0002g0036 others(18): Show a0001c0002t0002g0007 a0001c0002t0002g0028 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0046 a0001c0002t0002g0050 a0001c0002t0002g0055 a0001c0002t0002g0088 a0001c0002t0002g0100 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0139 a0001c0002t0002g0147 a0001c0002t0002g0149 a0001c0002t0002g0162 a0001c0002t0002g0164 a0001c0002t0006g0038 a0001c0002t0012g0180 a0001c0002t0018g0002 a0001c0002t0026g0158 a0001c0002t0033g0186	21	206	0.1019	-47	c.29 others(58): Show c.2968_*3014delCGTTTGGTTACCCTCGGTGCATCCCTGTCTCCAG GTGCATTGACTAT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding		378		chr4	TogoVar
PDZD2_chr5_31634131_32115932	31804648	GACCTCAA others(40): Show GACCTCAACTTCTGCACCAGATCTGTACTTTGGTCCTTGTGCGATACT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01255.hp1 HG01358.hp2 others(3): Show HG00735.hp1 HG01255.hp1 HG01358.hp2 HG01496.hp1 HG02257.hp2 HG03710.hp1	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0017c0031	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0017c0031t0001	a0001c0001t0001g0086 a0001c0001t0001g0106 a0001c0001t0001g0136 others(3): Show a0001c0001t0001g0086 a0001c0001t0001g0106 a0001c0001t0001g0136 a0001c0005t0001g0066 a0002c0002t0001g0165 a0017c0031t0001g0186	6	214	0.0280	-47	c.476 others(64): Show c.476+4969_476+5015delACTACCTCAACTTCTGCACCAGATCTGT ACTTTGGTCCTTGTGCGAT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZRN4_chr12_41183320_41579745	41452916	AAGCCTGG others(40): Show AAGCCTGGAGAGTTGTCCCAGGAACAACACCTGGGAGGAAATGAAGGT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0008 a0008	a0008c0056 a0008c0056	a0008c0056t0001 a0008c0056t0001	a0008c0056t0001g0160 a0008c0056t0001g0160	1	206	0.0049	-47	c.844 others(66): Show c.844-53537_844-53491delCCTGGAGAGTTGTCCCAGGAACAACA CCTGGGAGGAAATGAAGGTAG	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PFKP_chr10_3062548_3141802	3115309	GGTGAAAG others(40): Show GGTGAAAGTGTGTGTCCCACGGCGGAGGACAGGACTGGGGATGCTGGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(153): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00733.hp1 HG00738.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02572.hp1 HG02602.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp2 NA19054.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA21309.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0012 a0001c0020 a0001c0022 a0001c0032 a0001c0033 a0001c0037 a0001c0052 a0001c0053 a0001c0055 a0001c0064 a0001c0066 a0003c0030 a0004c0051 a0008c0054	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(24): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0002t0002 a0001c0003t0001 a0001c0003t0007 a0001c0003t0011 a0001c0003t0012 a0001c0008t0005 a0001c0012t0002 a0001c0012t0004 a0001c0020t0001 a0001c0020t0014 a0001c0022t0001 a0001c0032t0004 a0001c0033t0003 a0001c0037t0002 a0001c0052t0006 a0001c0053t0001 a0001c0055t0005 a0001c0064t0002 a0001c0066t0007 a0003c0030t0003 a0004c0051t0004 a0008c0054t0003	a0001c0001t0002g0007 a0001c0001t0002g0037 a0001c0001t0002g0038 others(152): Show a0001c0001t0002g0007 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0121 a0001c0001t0002g0192 a0001c0001t0002g0201 a0001c0001t0002g0205 a0001c0001t0002g0224 a0001c0001t0002g0250 a0001c0001t0002g0267 a0001c0001t0002g0296 a0001c0001t0002g0301 a0001c0001t0002g0309 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0345 a0001c0001t0002g0362 a0001c0001t0002g0384 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0008 a0001c0001t0003g0019 a0001c0001t0003g0035 a0001c0001t0003g0057 a0001c0001t0003g0083 a0001c0001t0003g0134 a0001c0001t0003g0167 a0001c0001t0003g0171 a0001c0001t0003g0231 a0001c0001t0003g0236 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0275 a0001c0001t0003g0284 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0316 a0001c0001t0003g0320 a0001c0001t0003g0340 a0001c0001t0003g0351 a0001c0001t0003g0379 a0001c0001t0003g0380 a0001c0001t0003g0381 a0001c0001t0003g0383 a0001c0001t0003g0391 a0001c0001t0003g0393 a0001c0001t0004g0018 a0001c0001t0004g0046 a0001c0001t0004g0257 a0001c0001t0004g0272 a0001c0001t0004g0328 a0001c0001t0004g0368 a0001c0001t0004g0382 a0001c0001t0006g0025 a0001c0001t0006g0090 a0001c0001t0006g0128 a0001c0001t0006g0130 a0001c0001t0006g0222 a0001c0001t0006g0277 a0001c0001t0006g0311 a0001c0001t0008g0148 a0001c0001t0008g0209 a0001c0001t0008g0299 a0001c0001t0008g0342 a0001c0002t0002g0095 a0001c0002t0002g0114 a0001c0002t0002g0136 a0001c0002t0002g0377 a0001c0003t0001g0010 a0001c0003t0001g0022 a0001c0003t0001g0034 a0001c0003t0001g0039 a0001c0003t0001g0061 a0001c0003t0001g0064 a0001c0003t0001g0068 a0001c0003t0001g0086 a0001c0003t0001g0089 a0001c0003t0001g0093 a0001c0003t0001g0098 a0001c0003t0001g0107 a0001c0003t0001g0116 a0001c0003t0001g0119 a0001c0003t0001g0122 a0001c0003t0001g0124 a0001c0003t0001g0135 a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0143 a0001c0003t0001g0146 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0170 a0001c0003t0001g0183 a0001c0003t0001g0191 a0001c0003t0001g0203 a0001c0003t0001g0206 a0001c0003t0001g0208 a0001c0003t0001g0256 a0001c0003t0001g0260 a0001c0003t0001g0263 a0001c0003t0001g0274 a0001c0003t0001g0276 a0001c0003t0001g0282 a0001c0003t0001g0295 a0001c0003t0001g0297 a0001c0003t0001g0300 a0001c0003t0001g0310 a0001c0003t0001g0313 a0001c0003t0001g0314 a0001c0003t0001g0364 a0001c0003t0001g0365 a0001c0003t0001g0366 a0001c0003t0001g0375 a0001c0003t0007g0104 a0001c0003t0007g0151 a0001c0003t0007g0158 a0001c0003t0011g0053 a0001c0003t0011g0264 a0001c0003t0011g0285 a0001c0003t0012g0021 a0001c0003t0012g0227 a0001c0008t0005g0106 a0001c0008t0005g0115 a0001c0008t0005g0178 a0001c0008t0005g0202 a0001c0008t0005g0298 a0001c0008t0005g0341 a0001c0008t0005g0361 a0001c0008t0005g0386 a0001c0008t0005g0392 a0001c0008t0005g0400 a0001c0012t0002g0218 a0001c0012t0004g0062 a0001c0020t0001g0321 a0001c0020t0014g0140 a0001c0022t0001g0278 a0001c0022t0001g0292 a0001c0022t0001g0303 a0001c0032t0004g0194 a0001c0032t0004g0195 a0001c0033t0003g0077 a0001c0037t0002g0230 a0001c0052t0006g0099 a0001c0053t0001g0126 a0001c0055t0005g0234 a0001c0064t0002g0149 a0001c0066t0007g0258 a0003c0030t0003g0040 a0003c0030t0003g0212 a0004c0051t0004g0112 a0008c0054t0003g0266	156	400	0.3900	-47	c.137 others(66): Show c.1372-1461_1372-1415delAGTGTGTGTCCCACGGCGGAGGACAG GACTGGGGATGCTGGAGTGAA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3115336	GACAGGAC others(40): Show GACAGGACTGGGGATGCTGGAGTGAAGGTGTGTGTCCCGCAGCTGAGA	G G	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0317 a0001c0001t0003g0317	1	392	0.0026	-47	c.137 others(66): Show c.1372-1423_1372-1377delTGGAGTGAAGGTGTGTGTCCCGCAGC TGAGAACAGGACTGGGGATGC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3115383	AACAGGAC others(40): Show AACAGGACTGGGGATGCCGGGGTGAAGGTGTGTGTCCCGCCATGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(96): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00597.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02129.hp1 HG02148.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18950.hp1 NA18952.hp2 NA18962.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp2 NA18993.hp1 NA19010.hp1 NA19058.hp2 NA19064.hp1 NA19070.hp2 NA19082.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0010	a0001c0004 a0001c0005 a0001c0007 others(24): Show a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0021 a0001c0031 a0001c0034 a0001c0036 a0001c0038 a0001c0039 a0001c0047 a0001c0049 a0001c0050 a0001c0060 a0001c0062 a0001c0067 a0005c0063 a0006c0061 a0010c0035	a0001c0004t0002 a0001c0004t0003 a0001c0004t0006 others(40): Show a0001c0004t0002 a0001c0004t0003 a0001c0004t0006 a0001c0004t0007 a0001c0004t0008 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0001c0005t0006 a0001c0005t0007 a0001c0005t0008 a0001c0005t0009 a0001c0007t0005 a0001c0007t0019 a0001c0008t0001 a0001c0009t0001 a0001c0009t0007 a0001c0009t0012 a0001c0010t0001 a0001c0010t0005 a0001c0011t0003 a0001c0012t0002 a0001c0015t0001 a0001c0016t0001 a0001c0016t0007 a0001c0017t0010 a0001c0018t0005 a0001c0021t0002 a0001c0021t0009 a0001c0031t0001 a0001c0034t0005 a0001c0036t0010 a0001c0038t0002 a0001c0039t0005 a0001c0047t0018 a0001c0049t0005 a0001c0050t0005 a0001c0060t0003 a0001c0062t0001 a0001c0067t0005 a0005c0063t0005 a0006c0061t0003 a0010c0035t0005	a0001c0004t0002g0002 a0001c0004t0003g0071 a0001c0004t0003g0072 others(96): Show a0001c0004t0002g0002 a0001c0004t0003g0071 a0001c0004t0003g0072 a0001c0004t0003g0074 a0001c0004t0003g0091 a0001c0004t0003g0110 a0001c0004t0006g0050 a0001c0004t0007g0079 a0001c0004t0007g0397 a0001c0004t0007g0398 a0001c0004t0008g0088 a0001c0004t0008g0327 a0001c0005t0002g0005 a0001c0005t0002g0179 a0001c0005t0002g0280 a0001c0005t0002g0307 a0001c0005t0002g0323 a0001c0005t0002g0329 a0001c0005t0002g0333 a0001c0005t0003g0118 a0001c0005t0003g0187 a0001c0005t0004g0014 a0001c0005t0004g0176 a0001c0005t0004g0219 a0001c0005t0006g0047 a0001c0005t0006g0055 a0001c0005t0006g0216 a0001c0005t0006g0283 a0001c0005t0006g0306 a0001c0005t0007g0033 a0001c0005t0008g0304 a0001c0005t0009g0168 a0001c0005t0009g0193 a0001c0007t0005g0011 a0001c0007t0005g0032 a0001c0007t0005g0094 a0001c0007t0005g0173 a0001c0007t0005g0180 a0001c0007t0005g0210 a0001c0007t0005g0233 a0001c0007t0005g0279 a0001c0007t0005g0290 a0001c0007t0005g0332 a0001c0007t0005g0336 a0001c0007t0005g0349 a0001c0007t0005g0367 a0001c0007t0005g0372 a0001c0007t0005g0387 a0001c0007t0005g0388 a0001c0007t0019g0161 a0001c0008t0001g0268 a0001c0009t0001g0044 a0001c0009t0001g0056 a0001c0009t0001g0092 a0001c0009t0001g0097 a0001c0009t0001g0259 a0001c0009t0007g0082 a0001c0009t0012g0087 a0001c0010t0001g0080 a0001c0010t0001g0164 a0001c0010t0001g0215 a0001c0010t0001g0232 a0001c0010t0001g0237 a0001c0010t0001g0354 a0001c0010t0001g0357 a0001c0010t0005g0015 a0001c0011t0003g0059 a0001c0011t0003g0360 a0001c0012t0002g0101 a0001c0015t0001g0029 a0001c0015t0001g0073 a0001c0015t0001g0075 a0001c0015t0001g0378 a0001c0016t0001g0181 a0001c0016t0001g0220 a0001c0016t0007g0052 a0001c0016t0007g0058 a0001c0017t0010g0004 a0001c0018t0005g0013 a0001c0018t0005g0070 a0001c0018t0005g0175 a0001c0018t0005g0242 a0001c0021t0002g0137 a0001c0021t0009g0207 a0001c0031t0001g0028 a0001c0031t0001g0043 a0001c0034t0005g0396 a0001c0036t0010g0165 a0001c0038t0002g0322 a0001c0039t0005g0371 a0001c0047t0018g0228 a0001c0049t0005g0369 a0001c0050t0005g0125 a0001c0060t0003g0394 a0001c0062t0001g0177 a0001c0067t0005g0325 a0005c0063t0005g0246 a0006c0061t0003g0286 a0010c0035t0005g0324	99	223	0.4439	-47	c.137 others(66): Show c.1372-1329_1372-1283delCGGGGTGAAGGTGTGTGTCCCGCCAT GGAGGACAGGACTGGGGATGC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAM5_chr12_132705842_132727734	132718455	CCTGGGTG others(40): Show CCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	283	0.0035	-47	c.719 others(62): Show c.719+346_719+392delTGCGTGCTGGGTGGGGGTGTCCTGGGTGGG GTGCGTGCTGGGTGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGLYRP4_chr1_153325120_153353841	153350632	GGAAAGAA others(40): Show GGAAAGAAAGAAAGAAAAAAGAAAGAAAGAAAGAGAGAAAGAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00621.hp1 others(30): Show HG00438.hp1 HG00544.hp2 HG00621.hp1 HG01257.hp1 HG01346.hp2 HG01943.hp1 HG02015.hp1 HG02027.hp2 HG02135.hp2 HG02155.hp1 HG02738.hp1 HG03017.hp2 HG03491.hp1 HG03654.hp1 HG03710.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 NA18612.hp1 NA18939.hp2 NA18960.hp2 NA18964.hp1 NA18966.hp2 NA18974.hp2 NA18983.hp1 NA18985.hp1 NA18990.hp2 NA19000.hp2 NA19006.hp1 NA19012.hp1 NA19063.hp1 NA19077.hp1 NA20300.hp2	a0003 a0009 a0003 a0009	a0003c0003 a0009c0013 a0003c0003 a0009c0013	a0003c0003t0003 a0003c0003t0010 a0009c0013t0003 a0003c0003t0003 a0003c0003t0010 a0009c0013t0003	a0003c0003t0003g0004 a0003c0003t0003g0022 a0003c0003t0003g0048 others(11): Show a0003c0003t0003g0004 a0003c0003t0003g0022 a0003c0003t0003g0048 a0003c0003t0003g0049 a0003c0003t0003g0050 a0003c0003t0003g0051 a0003c0003t0003g0052 a0003c0003t0003g0053 a0003c0003t0003g0054 a0003c0003t0003g0055 a0003c0003t0003g0056 a0003c0003t0010g0065 a0009c0013t0003g0046 a0009c0013t0003g0047	33	249	0.1325	-47	c.-21 others(58): Show c.-2198_-2152delTTTCTTTCTTTCTCTCTTTCTTTCTTTCTTTTTT CTTTCTTTCTTTC	PGLYRP4	ENSG00000163218.15	transcript	ENST00000359650.10	protein_coding		1792		chr1	TogoVar
PI4K2A_chr10_97635671_97681434	97678953	GTGTGTGT others(40): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0253 a0001c0002t0009g0253	1	331	0.0030	-47	c.52 others(58): Show c.5212_*5258delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2520		chr10	TogoVar
PIGL_chr17_16212210_16331411	16312053	ACCTCCCG others(40): Show ACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGCTGCCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19030.hp2 HG02886.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0084 a0001c0001t0006g0106 a0001c0001t0001g0084 a0001c0001t0006g0106	2	244	0.0082	-47	c.427 others(64): Show c.427-1484_427-1438delCGGGGTGGCTGGCCGGGTGGGGGCTGCC CCCCCACCTCCCTCCCGGA	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PIGU_chr20_34555542_34682092	34631741	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01167.hp2 HG01243.hp2 others(2): Show HG00738.hp1 HG01167.hp2 HG01243.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0171 a0001c0001t0001g0172 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175	5	307	0.0163	-47	c.529 others(64): Show c.529+2827_529+2873delAAATATATATATATATATATATATATAT ATATATATATATATATATA	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIGU_chr20_34555542_34682092	34631755	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	310	0.0032	-47	c.529 others(64): Show c.529+2813_529+2859delAAAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATA	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIGU_chr20_34555542_34682092	34631757	ATATATAT others(40): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03669.hp1 NA18982.hp2 others(1): Show HG02083.hp2 HG03669.hp1 NA18982.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0076 others(1): Show a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0135	4	317	0.0126	-47	c.529 others(64): Show c.529+2811_529+2857delAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATA	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIMREG_chr17_6439455_6456469	6451767	ATGATTTT others(40): Show ATGATTTTTACGAAGGTTTCCCCCAAGCCCGGAAGGAAAGGAAGGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	310	0.0032	-47	c.14 others(58): Show c.1421_*1467delTGATTTTTACGAAGGTTTCCCCCAAGCCCGGAAG GAAAGGAAGGAGG	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		299		chr17	TogoVar
PIP5K1C_chr19_3625183_3705468	3683883	TCCCCCAC others(40): Show TCCCCCACACTGGAGCCCCTGCTTCCCCTCCCGGGCAGTCCCACACCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp2 HG02630.hp2 others(1): Show HG02451.hp2 HG02622.hp2 HG02630.hp2 HG03225.hp2	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0004 a0003c0005 a0007c0024 a0002c0004 a0003c0005 a0007c0024	a0002c0004t0006 a0003c0005t0036 a0007c0024t0038 a0002c0004t0006 a0003c0005t0036 a0007c0024t0038	a0002c0004t0006g0172 a0002c0004t0006g0223 a0003c0005t0036g0174 others(1): Show a0002c0004t0006g0172 a0002c0004t0006g0223 a0003c0005t0036g0174 a0007c0024t0038g0329	4	330	0.0121	-47	c.94+ others(64): Show c.94+16367_94+16413delGGGTGTGGGACTGCCCGGGAGGGGAAGC AGGGGCTCCAGTGTGGGGG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	1/17			chr19	TogoVar
PKD2L1_chr10_100283149_100335228	100314984	AAGGAAGG others(40): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGGAAGGGAAGGG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0281 a0001c0010t0001g0281	1	302	0.0033	-47	c.349 others(66): Show c.349+14180_349+14226delCCCTTCCCTTCCCTTCCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCT	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100314997	AGGAAGGA others(40): Show AGGAAGGAAGGAAGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp2 HG00741.hp1 others(13): Show HG00544.hp1 HG00735.hp2 HG00741.hp1 HG01081.hp1 HG01168.hp2 HG01169.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG02040.hp2 HG02559.hp2 HG02698.hp1 HG03579.hp1 HG04115.hp1 NA20752.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0007c0007t0001 a0001c0001t0001 a0007c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0078 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0231 a0001c0001t0001g0250 a0001c0001t0001g0258 a0007c0007t0001g0028 a0007c0007t0001g0030	16	278	0.0576	-47	c.349 others(66): Show c.349+14167_349+14213delCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCTTCCTTCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKHD1L1_chr8_109357461_109542207	109380177	CCTCTTGT others(40): Show CCTCTTGTATTAAATCTTAGCAGAGATCTCAGCTGGCTACCTCTAACA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02895.hp2 HG01243.hp2 HG02895.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0018c0019 a0001c0001 a0018c0019	a0001c0001t0002 a0018c0019t0004 a0001c0001t0002 a0018c0019t0004	a0001c0001t0002g0195 a0018c0019t0004g0177 a0001c0001t0002g0195 a0018c0019t0004g0177	2	280	0.0071	-47	c.164 others(64): Show c.164-1173_164-1127delCAGAGATCTCAGCTGGCTACCTCTAACA CTCTTGTATTAAATCTTAG	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	2/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKLR_chr1_155284293_155306438	155298953	CCTTTCTT others(40): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0132 a0001c0002t0002g0132	1	214	0.0047	-47	c.283 others(64): Show c.283+1098_283+1144delAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAG	PKLR	ENSG00000143627.19	transcript	ENST00000342741.6	protein_coding	2/10			chr1	TogoVar
PKP2_chr12_32785755_32901777	32858106	TATATATA others(40): Show TATATATATATTTATATATATTTTATATTTATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01346.hp1 HG02698.hp1 others(1): Show HG01081.hp2 HG01346.hp1 HG02698.hp1 NA18962.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0020 a0002c0002 a0009c0020	a0002c0002t0001 a0002c0002t0002 a0009c0020t0001 a0002c0002t0001 a0002c0002t0002 a0009c0020t0001	a0002c0002t0001g0239 a0002c0002t0001g0241 a0002c0002t0002g0238 others(1): Show a0002c0002t0001g0239 a0002c0002t0001g0241 a0002c0002t0002g0238 a0009c0020t0001g0326	4	340	0.0118	-47	c.117 others(66): Show c.1171-7180_1171-7134delTTATATATATATATATATAAATATAA AATATATATAAATATATATAT	PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	4/12			chr12	TogoVar
PKP3_chr11_389209_409908	402186	CGGCCCCG others(40): Show CGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCG	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0025 a0001c0007t0001g0025	1	214	0.0047	-47	c.173 others(64): Show c.1738-890_1738-844delGCCCCGCTCACCCCCGGCTCCACTGACC CCGGCCCCGCTCACCCCGG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402419	CGGCCCCG others(40): Show CGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCG	C C	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0102 a0001c0009t0001g0102	1	213	0.0047	-47	c.173 others(64): Show c.1738-657_1738-611delGCCCCGCTCACCCCCGGCTCCACTGACC CCGGCCCCGCTCACCCCGG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLAC1_chrX_134560838_134663471	134603289	ATATATAT others(40): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	250	0.0040	-47	c.-13 others(66): Show c.-130-1214_-130-1168delAAAAAAAAAAAAAAAAAAAAAAATAT ATATATATATATATATATATA	PLAC1	ENSG00000170965.10	transcript	ENST00000359237.9	protein_coding	1/2			chrX	TogoVar
PLCB4_chr20_9064087_9485808	9413339	CCAGTGGC others(40): Show CCAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCCGAGGCGGG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 NA18522.hp1 HG01891.hp1 HG02055.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0012 a0001c0003t0001 a0001c0001t0003 a0001c0001t0012 a0001c0003t0001	a0001c0001t0003g0060 a0001c0001t0012g0117 a0001c0003t0001g0135 a0001c0001t0003g0060 a0001c0001t0012g0117 a0001c0003t0001g0135	3	138	0.0217	-47	c.205 others(66): Show c.2051+2302_2051+2348delTGGCTCACACCTGGAATCCCAGCACT TTGGGAGGCCGAGGCGGGCAG	PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	25/39		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLD1_chr3_171595404_171815483	171764864	AAAGAAAG others(40): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0242 a0002c0003t0005g0242	1	291	0.0034	-47	c.-31 others(66): Show c.-31-26829_-31-26783delCTTCCTTCCTTCCTTCCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTT	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLD1_chr3_171595404_171815483	171764867	GAAAGAAA others(40): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19062.hp1 NA18942.hp2 NA19062.hp1	a0002 a0002	a0002c0003 a0002c0017 a0002c0003 a0002c0017	a0002c0003t0003 a0002c0017t0005 a0002c0003t0003 a0002c0017t0005	a0002c0003t0003g0164 a0002c0017t0005g0168 a0002c0003t0003g0164 a0002c0017t0005g0168	2	291	0.0069	-47	c.-31 others(66): Show c.-31-26832_-31-26786delTTCCTTCCTTCCTTCCTTCCTTTCTT TCTTTCTTTCTTTCTTTCTTT	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLEKHG1_chr6_150594885_150848665	150810496	GAGGGAAA others(40): Show GAGGGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01123.hp2 HG01256.hp1 others(6): Show HG00735.hp2 HG01123.hp2 HG01256.hp1 HG01346.hp1 HG01496.hp2 HG03669.hp2 NA18954.hp2 NA19005.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 others(2): Show a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0046	a0001c0002t0001 a0001c0002t0016 a0001c0004t0004 others(5): Show a0001c0002t0001 a0001c0002t0016 a0001c0004t0004 a0001c0004t0030 a0001c0005t0006 a0001c0006t0004 a0001c0006t0008 a0001c0046t0004	a0001c0002t0001g0113 a0001c0002t0016g0221 a0001c0004t0004g0248 others(6): Show a0001c0002t0001g0113 a0001c0002t0016g0221 a0001c0004t0004g0248 a0001c0004t0030g0033 a0001c0005t0006g0031 a0001c0006t0004g0037 a0001c0006t0004g0151 a0001c0006t0008g0175 a0001c0046t0004g0032	9	231	0.0390	-47	c.127 others(64): Show c.1278+764_1278+810delGGGAAAGAAAGAAAGAAAAAGAAAGAAA GAAAGAAAGAAAGGAAGAA	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLPP2_chr19_276043_296403	282439	ACCTGCCA others(40): Show ACCTGCCAGGCGCTCCCCCTCCCCCTGCACAGACGTGTTAGCCTTGCG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02129.hp2 HG02735.hp2 HG01891.hp2 HG02129.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0184 a0001c0001t0002g0008 a0001c0001t0002g0103 a0001c0001t0001g0184 a0001c0001t0002g0008 a0001c0001t0002g0103	3	351	0.0085	-47	c.541 others(62): Show c.541-176_541-130delCGCAAGGCTAACACGTCTGTGCAGGGGGAG GGGGAGCGCCTGGCAGG	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding	4/5			chr19	TogoVar

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