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
OR2AG1_chr11_6778020_6796558	6779194	ATATATAT others(34): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02109.hp1 NA19007.hp2 others(2): Show HG02027.hp1 HG02109.hp1 NA19007.hp2 NA19068.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0044 a0001c0001t0001 a0001c0001t0026 a0001c0001t0044	a0001c0001t0001g0003 a0001c0001t0026g0001 a0001c0001t0044g0003 a0001c0001t0001g0003 a0001c0001t0026g0001 a0001c0001t0044g0003	5	427	0.0117	-41	c.-42 others(52): Show c.-4297_-4257delTATATATATATATATATATATATATTTTTTTTTT TTTTTTT	OR2AG1	ENSG00000279486.6	transcript	ENST00000641258.1	protein_coding		3825		chr11	TogoVar
OR4F5_chr1_60419_76585	66231	TAATATAT others(34): Show TAATATATATTATATTATATAATATATAATATAAATATAATA	T T	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02738.hp1 HG03017.hp2 others(7): Show HG02148.hp1 HG02738.hp1 HG03017.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18991.hp1 NA18998.hp2 NA19077.hp2 NA19081.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0006 a0001c0006t0002 a0001c0006t0006	a0001c0006t0002g0003 a0001c0006t0006g0003 a0001c0006t0002g0003 a0001c0006t0006g0003	10	214	0.0467	-41	c.9+6 others(52): Show c.9+659_9+699delAATATATATTATATTATATAATATATAATATAAA TATAATA	OR4F5	ENSG00000186092.7	transcript	ENST00000641515.2	protein_coding	2/2			chr1	TogoVar
OR4P4_chr11_55630113_55645309	55632951	AGCCGTAT others(34): Show AGCCGTATGGTCATATCAATAAATGCAGAAACAATTTTTAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	222	0.0045	-41	c.-22 others(52): Show c.-2295_-2255delGCCGTATGGTCATATCAATAAATGCAGAAACAAT TTTTAAG	OR4P4	ENSG00000181927.4	transcript	ENST00000641760.1	protein_coding		2161		chr11	TogoVar
OR4P4_chr11_55630113_55645309	55633073	CCATGAAT others(34): Show CCATGAATAACCAATAGCTAACATAATAATTAATGATGAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	222	0.0045	-41	c.-21 others(52): Show c.-2173_-2133delCATGAATAACCAATAGCTAACATAATAATTAATG ATGAAAA	OR4P4	ENSG00000181927.4	transcript	ENST00000641760.1	protein_coding		2039		chr11	TogoVar
OR5T1_chr11_56269154_56281819	56278966	CAGTCATA others(34): Show CAGTCATAATTATGGTCATTATTTAAGCTATTTTAGAACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02965.hp1 HG03139.hp1 HG02818.hp1 HG02965.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0009 a0001c0002t0004g0009	3	378	0.0079	-41	c.23 others(52): Show c.2348_*2388delAGTCATAATTATGGTCATTATTTAAGCTATTTTA GAACACA	OR5T1	ENSG00000181698.5	transcript	ENST00000641665.1	protein_coding		2148		chr11	TogoVar
OR9Q1_chr11_58018881_58186616	58037677	ATATATAT others(34): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	243	0.0041	-41	c.-93 others(60): Show c.-93+13575_-93+13615delATATATATATATTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	OR9Q1	ENSG00000186509.4	transcript	ENST00000335397.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
OSTF1_chr9_75083514_75152265	75128373	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATTTTGTCC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0052 a0001c0001t0024g0052	1	364	0.0027	-41	c.132 others(56): Show c.132+769_132+809delATATATATATATATATATATTTTGTCCATA TATATATATAT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTOF_chr2_26452203_26483124	26475738	TGTGACCC others(34): Show TGTGACCCGCGTCTGCTGCAGTTATCTGCAGGGCTTCCCCTG	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0186 a0001c0002t0002g0186	1	328	0.0030	-41	c.750 others(56): Show c.750+135_750+175delCAGGGGAAGCCCTGCAGATAACTGCAGCAG ACGCGGGTCAC	OTOF	ENSG00000115155.19	transcript	ENST00000339598.8	protein_coding	7/28			chr2	TogoVar
OTOGL_chr12_80094537_80385880	80123497	TGTGCATG others(34): Show TGTGCATGTGCCTTTATAGCAGCATGATTTATAATCCTTTGG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18522.hp2 HG02280.hp1 NA18522.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0008 a0002c0003 a0003c0008	a0002c0003t0002 a0003c0008t0005 a0002c0003t0002 a0003c0008t0005	a0002c0003t0002g0078 a0003c0008t0005g0077 a0002c0003t0002g0078 a0003c0008t0005g0077	2	166	0.0120	-41	c.-20 others(60): Show c.-20+23895_-20+23935delGCATGTGCCTTTATAGCAGCATGATT TATAATCCTTTGGGT	OTOGL	ENSG00000165899.12	transcript	ENST00000547103.7	protein_coding	1/58		INFO_REALIGN_3_PRIME	chr12	TogoVar
OTOG_chr11_17542259_17651044	17613170	TTTTCTTT others(34): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG04115.hp1 NA20752.hp2 HG02258.hp2 HG04115.hp1 NA20752.hp2	a0008 a0107 a0008 a0107	a0008c0029 a0008c0151 a0107c0091 a0008c0029 a0008c0151 a0107c0091	a0008c0029t0001 a0008c0151t0001 a0107c0091t0001 a0008c0029t0001 a0008c0151t0001 a0107c0091t0001	a0008c0029t0001g0211 a0008c0151t0001g0263 a0107c0091t0001g0082 a0008c0029t0001g0211 a0008c0151t0001g0263 a0107c0091t0001g0082	3	227	0.0132	-41	c.643 others(58): Show c.6439-414_6439-374delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTT	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	38/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OXSR1_chr3_38160537_38260484	38258974	TTTAATCT others(34): Show TTTAATCTATATGTGTCTATGTTTCTTGTTGAAAACATATAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	246	0.0041	-41	c.60 others(52): Show c.6084_*6124delTTAATCTATATGTGTCTATGTTTCTTGTTGAAAA CATATAG	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding		3491		chr3	TogoVar
P2RX5_chr17_3668227_3701155	3699876	AGGAAGGA others(34): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG03239.hp1 HG01106.hp1 HG03239.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0123 a0002c0002t0002g0030 a0001c0001t0001g0123 a0002c0002t0002g0030	2	355	0.0056	-41	c.-39 others(52): Show c.-3912_-3872delCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCC	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding		3722		chr17	TogoVar
P2RX5_chr17_3668227_3701155	3699886	GAAGGAAG others(34): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0319 a0005c0009t0001g0319	1	351	0.0028	-41	c.-39 others(52): Show c.-3922_-3882delTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTT	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding		3732		chr17	TogoVar
P2RY8_chrX_1457581_1542185	1466696	CAGGGCCT others(34): Show CAGGGCCTGCTGTCTCCTCCCTCCCTCCCTCCCTTAGTTCCT	C C	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0074 a0001c0001t0007g0074	1	113	0.0088	-41	c.-24 others(56): Show c.-24-155_-24-115delAGGAACTAAGGGAGGGAGGGAGGGAGGAGA CAGCAGGCCCT	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P3H2_chr3_189951728_190125897	189966083	GAAGAAAG others(34): Show GAAGAAAGAAAGAAAGAAAGAAAAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02027.hp2 HG02074.hp1 others(12): Show HG01109.hp1 HG02027.hp2 HG02074.hp1 HG02109.hp1 HG02165.hp1 HG02622.hp1 HG02896.hp2 HG03195.hp2 HG03710.hp1 NA18612.hp2 NA18943.hp1 NA18953.hp2 NA18963.hp1 NA18993.hp2 NA19060.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0008c0015	a0001c0001t0002 a0001c0002t0002 a0001c0003t0005 others(2): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0005 a0001c0009t0005 a0008c0015t0002	a0001c0001t0002g0030 a0001c0001t0002g0218 a0001c0002t0002g0043 others(12): Show a0001c0001t0002g0030 a0001c0001t0002g0218 a0001c0002t0002g0043 a0001c0002t0002g0053 a0001c0002t0002g0056 a0001c0002t0002g0092 a0001c0002t0002g0165 a0001c0002t0002g0169 a0001c0002t0002g0172 a0001c0002t0002g0186 a0001c0002t0002g0213 a0001c0002t0002g0250 a0001c0003t0005g0076 a0001c0009t0005g0085 a0008c0015t0002g0236	15	268	0.0560	-41	c.189 others(60): Show c.1894-2026_1894-1986delTTTCTTTCTTTCTTTCTTTTTTCTTT CTTTCTTTCTTTCTT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	13/14			chr3	TogoVar
P4HA1_chr10_73002217_73101866	73037531	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA20300.hp1 HG01258.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0166 a0001c0001t0001g0170	2	232	0.0086	-41	c.114 others(60): Show c.1149-7202_1149-7162delATATATATATATATATATATATATAT ATATATATATATATA	P4HA1	ENSG00000122884.13	transcript	ENST00000394890.7	protein_coding	9/14			chr10	TogoVar
PACSIN2_chr22_42864773_43020149	42981451	CCGGCCAG others(34): Show CCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGCGGGGGGGGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(177): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18945.hp2 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0006 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0002t0003 a0001c0002t0007 a0001c0002t0022 a0001c0003t0003 a0001c0003t0009 a0001c0003t0010 a0003c0006t0003 a0003c0006t0021 a0004c0008t0001	a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0045 others(177): Show a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0263 a0001c0001t0002g0055 a0001c0001t0002g0069 a0001c0001t0002g0085 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0107 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0143 a0001c0001t0002g0148 a0001c0001t0002g0161 a0001c0001t0011g0059 a0001c0001t0012g0147 a0001c0001t0013g0132 a0001c0001t0014g0096 a0001c0001t0015g0172 a0001c0001t0016g0116 a0001c0001t0017g0088 a0001c0001t0018g0103 a0001c0001t0024g0285 a0001c0002t0003g0005 a0001c0002t0003g0007 a0001c0002t0003g0009 a0001c0002t0003g0010 a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0003g0086 a0001c0002t0003g0144 a0001c0002t0003g0145 a0001c0002t0003g0164 a0001c0002t0003g0170 a0001c0002t0003g0246 a0001c0002t0003g0264 a0001c0002t0003g0267 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0002t0003g0271 a0001c0002t0003g0272 a0001c0002t0003g0273 a0001c0002t0003g0275 a0001c0002t0003g0276 a0001c0002t0003g0277 a0001c0002t0003g0278 a0001c0002t0007g0265 a0001c0002t0007g0266 a0001c0002t0007g0270 a0001c0002t0022g0020 a0001c0003t0003g0030 a0001c0003t0009g0082 a0001c0003t0009g0087 a0001c0003t0010g0073 a0001c0003t0010g0127 a0003c0006t0003g0006 a0003c0006t0021g0008 a0004c0008t0001g0156	180	292	0.6164	-41	c.-78 others(60): Show c.-78+33529_-78+33569delACCCCCCCCGCCGCCTCCCTCCCGGA CGGGGCGGCTGGCCG	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172376	ATATATAT others(34): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03195.hp2 NA19080.hp1 HG02976.hp2 HG03195.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0020 a0001c0001t0008 a0001c0001t0020	a0001c0001t0008g0004 a0001c0001t0020g0016 a0001c0001t0008g0004 a0001c0001t0020g0016	3	403	0.0074	-41	c.46 others(52): Show c.4678_*4718delTATATATATATATATATATATATATATATTTTTT TTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1332		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172378	ATATATAT others(34): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0130 a0001c0001t0015g0130	1	401	0.0025	-41	c.46 others(52): Show c.4680_*4720delTATATATATATATATATATATATATATTTTTTTT TTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1334		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172380	ATATATAT others(34): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0228	1	412	0.0024	-41	c.46 others(52): Show c.4682_*4722delTATATATATATATATATATATATATTTTTTTTTT TTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1336		chr11	TogoVar
PAK5_chr20_9532370_9844076	9641405	TGATTGGT others(34): Show TGATTGGTGTGTTTACAAACCTTGAGCTAGATACAGAGTGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0087 a0001c0002t0002g0087	1	206	0.0049	-41	c.204 others(58): Show c.204+2679_204+2719delGGCACTCTGTATCTAGCTCAAGGTTTGT AAACACACCAATC	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	3/9			chr20	TogoVar
PALLD_chr4_168492052_168933441	168701019	AATTACAG others(34): Show AATTACAGTTGTGATGATATTATTTGTGATAGATATTATTTC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01175.hp2 HG02451.hp1 others(5): Show HG01109.hp1 HG01175.hp2 HG02451.hp1 HG02559.hp1 HG02683.hp2 HG03540.hp2 HG06807.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0002t0010 a0002c0007t0001	a0001c0001t0001g0027 a0001c0001t0001g0051 a0001c0001t0003g0066 others(5): Show a0001c0001t0001g0027 a0001c0001t0001g0051 a0001c0001t0003g0066 a0001c0001t0008g0007 a0001c0001t0008g0054 a0001c0001t0012g0064 a0001c0002t0010g0094 a0002c0007t0001g0025	8	154	0.0519	-41	c.150 others(60): Show c.1502-7993_1502-7953delATATTATTTGTGATAGATATTATTTC ATTACAGTTGTGATG	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PAPPA_chr9_116148791_116407321	116289145	TATATATA others(34): Show TATATATATATATATAGCATATATATATAGCATATATGTAGC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG02559.hp1 HG01884.hp2 HG02257.hp1 HG02559.hp1	a0001 a0002 a0001 a0002	a0001c0017 a0002c0004 a0002c0018 a0001c0017 a0002c0004 a0002c0018	a0001c0017t0049 a0002c0004t0016 a0002c0018t0002 a0001c0017t0049 a0002c0004t0016 a0002c0018t0002	a0001c0017t0049g0231 a0002c0004t0016g0167 a0002c0018t0002g0233 a0001c0017t0049g0231 a0002c0004t0016g0167 a0002c0018t0002g0233	3	232	0.0129	-41	c.295 others(62): Show c.2954-13602_2954-13562delTATATAGCATATATATATAGCATA TATGTAGCATATATATA	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAQR5_chr15_69293912_69412780	69300626	TTTCTTTC others(34): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02280.hp1 HG03225.hp1 others(6): Show HG01070.hp1 HG02280.hp1 HG03225.hp1 NA18947.hp1 NA18954.hp1 NA18957.hp1 NA18969.hp1 NA18983.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0003	a0001c0001t0001g0047 a0001c0001t0001g0072 a0001c0001t0001g0103 others(6): Show a0001c0001t0001g0047 a0001c0001t0001g0072 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0002g0116 a0001c0001t0005g0049 a0001c0003t0003g0062	9	282	0.0319	-41	c.-27 others(60): Show c.-277+1579_-277+1619delTTCTTTCTTTCTTTCTTTTCTTTCTT TCTTTCATTCTTTCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARL_chr3_183824271_183889880	183882221	AAATATAT others(34): Show AAATATATATATATATATATATATTTATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02976.hp1 HG01109.hp2 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0114 a0002c0002t0001g0115	2	317	0.0063	-41	c.125 others(58): Show c.125+2460_125+2500delATATATATATATATATAAATATATATAT ATATATATATATT	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PARP1_chr1_226355691_226413093	226410456	TGGGAGGG others(34): Show TGGGAGGGGAGGGGAGGATGGGAGAGGAGGGGAGGAGGGGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0065 a0002c0003t0005g0065	1	355	0.0028	-41	c.-25 others(52): Show c.-2568_-2528delCTCCCCTCCTCCCCTCCTCTCCCATCCTCCCCTC CCCTCCC	PARP1	ENSG00000143799.14	transcript	ENST00000366794.10	protein_coding		2364		chr1	TogoVar
PARVB_chr22_44019302_44177939	44112699	CTAACTAA others(34): Show CTAACTAAGGCCCTACACCAGCAAAGATACATTGTTACTAAG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00621.hp2 others(73): Show HG00438.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02647.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03471.hp2 HG03486.hp1 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 NA18747.hp1 NA18747.hp2 NA18959.hp2 NA18964.hp2 NA18967.hp2 NA18977.hp2 NA18983.hp1 NA19010.hp2 NA19011.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19081.hp2 NA19086.hp2 NA19088.hp2 NA20129.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009	a0001c0001 a0001c0002 a0001c0005 others(13): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0023 a0001c0024 a0002c0003 a0003c0006 a0004c0009 a0005c0018 a0006c0032 a0008c0022 a0009c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0049 a0001c0001t0053 a0001c0001t0065 a0001c0001t0067 a0001c0001t0070 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0020 a0001c0002t0021 a0001c0002t0060 a0001c0005t0004 a0001c0005t0009 a0001c0007t0004 a0001c0007t0043 a0001c0008t0047 a0001c0011t0033 a0001c0012t0035 a0001c0023t0055 a0001c0024t0001 a0002c0003t0011 a0002c0003t0021 a0003c0006t0004 a0003c0006t0008 a0004c0009t0001 a0004c0009t0007 a0005c0018t0037 a0006c0032t0048 a0008c0022t0046 a0009c0017t0001	a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0050 others(73): Show a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0001t0001g0164 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0231 a0001c0001t0001g0262 a0001c0001t0001g0268 a0001c0001t0001g0274 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0314 a0001c0001t0002g0137 a0001c0001t0002g0171 a0001c0001t0002g0211 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0003g0006 a0001c0001t0003g0208 a0001c0001t0003g0233 a0001c0001t0003g0255 a0001c0001t0003g0271 a0001c0001t0004g0154 a0001c0001t0004g0203 a0001c0001t0005g0170 a0001c0001t0005g0260 a0001c0001t0006g0224 a0001c0001t0006g0276 a0001c0001t0007g0082 a0001c0001t0007g0215 a0001c0001t0007g0254 a0001c0001t0007g0265 a0001c0001t0009g0120 a0001c0001t0010g0178 a0001c0001t0011g0052 a0001c0001t0012g0183 a0001c0001t0016g0316 a0001c0001t0049g0308 a0001c0001t0053g0210 a0001c0001t0065g0015 a0001c0001t0067g0033 a0001c0001t0070g0225 a0001c0002t0001g0010 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0005g0126 a0001c0002t0005g0156 a0001c0002t0005g0176 a0001c0002t0005g0200 a0001c0002t0005g0201 a0001c0002t0007g0005 a0001c0002t0009g0322 a0001c0002t0012g0078 a0001c0002t0020g0073 a0001c0002t0021g0177 a0001c0002t0060g0023 a0001c0005t0004g0101 a0001c0005t0009g0072 a0001c0007t0004g0088 a0001c0007t0043g0094 a0001c0008t0047g0323 a0001c0011t0033g0326 a0001c0012t0035g0122 a0001c0023t0055g0083 a0001c0024t0001g0029 a0002c0003t0011g0284 a0002c0003t0021g0025 a0003c0006t0004g0106 a0003c0006t0008g0107 a0004c0009t0001g0258 a0004c0009t0007g0212 a0005c0018t0037g0103 a0006c0032t0048g0159 a0008c0022t0046g0123 a0009c0017t0001g0182	76	215	0.3535	-41	c.274 others(58): Show c.274-6335_274-6295delCTAAGGCCCTACACCAGCAAAGATACAT TGTTACTAAGTAA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44113421	TACTAAAT others(34): Show TACTAAATAAGGCCCTGTACCAACACAGATACATTGTTACTA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01346.hp2 HG01109.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0198 a0001c0001t0003g0227 a0001c0001t0002g0198 a0001c0001t0003g0227	2	330	0.0061	-41	c.274 others(58): Show c.274-5611_274-5571delATAAGGCCCTGTACCAACACAGATACAT TGTTACTAACTAA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44155004	GGTGTGTG others(34): Show GGTGTGTGTGTGTGGTTTTTGTAGTCTGTGTGGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02055.hp1 others(20): Show HG01243.hp2 HG01891.hp2 HG02055.hp1 HG02559.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03704.hp2 NA19043.hp1 NA20129.hp2 NA20300.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0008 a0009	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0003c0006 a0005c0014 a0005c0018 a0005c0029 a0008c0022 a0009c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0001 a0001c0002t0004 a0001c0002t0025 a0001c0002t0044 a0001c0002t0052 a0001c0005t0004 a0001c0005t0018 a0001c0005t0045 a0001c0007t0004 a0003c0006t0004 a0005c0014t0042 a0005c0018t0037 a0005c0029t0005 a0008c0022t0046 a0009c0017t0001	a0001c0001t0001g0111 a0001c0001t0003g0148 a0001c0001t0004g0184 others(20): Show a0001c0001t0001g0111 a0001c0001t0003g0148 a0001c0001t0004g0184 a0001c0001t0004g0187 a0001c0001t0008g0091 a0001c0001t0008g0193 a0001c0002t0001g0118 a0001c0002t0004g0128 a0001c0002t0025g0121 a0001c0002t0025g0172 a0001c0002t0044g0098 a0001c0002t0052g0017 a0001c0005t0004g0101 a0001c0005t0018g0093 a0001c0005t0045g0084 a0001c0007t0004g0088 a0003c0006t0004g0114 a0003c0006t0004g0127 a0005c0014t0042g0197 a0005c0018t0037g0103 a0005c0029t0005g0061 a0008c0022t0046g0123 a0009c0017t0001g0182	23	327	0.0703	-41	c.844 others(58): Show c.844-2935_844-2895delTGTGTGTGTGTGGTTTTTGTAGTCTGTG TGGTGTGTGTGTG	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVG_chr22_44175925_44213469	44176007	GTGTGTTT others(34): Show GTGTGTTTTCGAAACATCCACACAGGGTTCTGATGTTCTCGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0059 a0001c0001t0035g0059	1	420	0.0024	-41	c.-53 others(52): Show c.-5366_-5326delTGTGTTTTCGAAACATCCACACAGGGTTCTGATG TTCTCGA	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding		4917		chr22	TogoVar
PASK_chr2_241101099_241154472	241108942	GCCGTAAA others(34): Show GCCGTAAACATCCTCATCCACGCTACCATTTATTTCCTGTCA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02145.hp1 HG00642.hp2 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0015 a0001c0002t0001 a0001c0002t0015	a0001c0002t0001g0188 a0001c0002t0015g0049 a0001c0002t0001g0188 a0001c0002t0015g0049	2	374	0.0053	-41	c.353 others(58): Show c.3534-683_3534-643delTGACAGGAAATAAATGGTAGCGTGGATG AGGATGTTTACGG	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	15/17			chr2	TogoVar
PASK_chr2_241101099_241154472	241109024	ACCGTAAA others(34): Show ACCGTAAACATCCTCATCCACGCTACCATTTATTTCCTGTCG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03195.hp1 HG02486.hp2 HG03195.hp1	a0004 a0004	a0004c0026 a0004c0026	a0004c0026t0008 a0004c0026t0008	a0004c0026t0008g0124 a0004c0026t0008g0125 a0004c0026t0008g0124 a0004c0026t0008g0125	2	374	0.0053	-41	c.353 others(58): Show c.3534-765_3534-725delCGACAGGAAATAAATGGTAGCGTGGATG AGGATGTTTACGG	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	15/17			chr2	TogoVar
PAWR_chr12_79579879_79695964	79613947	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0224 a0002c0002t0001g0224	1	250	0.0040	-41	c.649 others(56): Show c.649-379_649-339delAAAAAAAAATATATATATATATATATATAT ATATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79613951	ATATATAT others(34): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03490.hp1 HG03491.hp1 others(2): Show HG00741.hp2 HG03490.hp1 HG03491.hp1 HG03688.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0003 a0002c0002t0001 a0001c0003t0003 a0002c0002t0001	a0001c0003t0003g0099 a0002c0002t0001g0173 a0002c0002t0001g0191 others(2): Show a0001c0003t0003g0099 a0002c0002t0001g0173 a0002c0002t0001g0191 a0002c0002t0001g0208 a0002c0002t0001g0209	5	242	0.0207	-41	c.649 others(56): Show c.649-383_649-343delAAAAAAAAAAAAATATATATATATATATAT ATATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79613953	ATATATAT others(34): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18965.hp2 NA18967.hp2 others(2): Show NA18946.hp2 NA18965.hp2 NA18967.hp2 NA18984.hp2 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0012 a0002c0002t0001 a0002c0002t0012	a0002c0002t0001g0195 a0002c0002t0001g0219 a0002c0002t0001g0225 others(2): Show a0002c0002t0001g0195 a0002c0002t0001g0219 a0002c0002t0001g0225 a0002c0002t0001g0236 a0002c0002t0012g0220	5	246	0.0203	-41	c.649 others(56): Show c.649-385_649-345delAAAAAAAAAAAAAAATATATATATATATAT ATATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79613955	ATATATAT others(34): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02886.hp1 HG03486.hp1 HG02071.hp2 HG02886.hp1 HG03486.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0002c0002t0021 a0003c0004t0001 a0002c0002t0001 a0002c0002t0021 a0003c0004t0001	a0002c0002t0001g0237 a0002c0002t0021g0185 a0003c0004t0001g0008 a0002c0002t0001g0237 a0002c0002t0021g0185 a0003c0004t0001g0008	3	234	0.0128	-41	c.649 others(56): Show c.649-387_649-347delAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79638868	ATATATAT others(34): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18906.hp2 NA18972.hp2 others(1): Show HG03139.hp1 NA18906.hp2 NA18972.hp2 NA19004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0171 a0002c0002t0001g0210 a0002c0002t0001g0211 others(1): Show a0002c0002t0001g0171 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212	4	254	0.0157	-41	c.517 others(60): Show c.517-17702_517-17662delAAAAAAAAAAAAATATATATATATAT ATATATATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAX6_chr11_31784026_31816322	31794404	AACACACA others(34): Show AACACACACACACACACCACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	372	0.0027	-41	c.724 others(56): Show c.724+185_724+225delGTGTGTGTGTGTGTGTGTGTGTGTGGTGTG TGTGTGTGTGT	PAX6	ENSG00000007372.25	transcript	ENST00000640368.2	protein_coding	9/13			chr11	TogoVar
PCCA_chr13_100084093_100535435	100134893	ATCCTGCA others(34): Show ATCCTGCACATGCTTTGTTTTGTTTGTTTTTTGTAGACAGGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03098.hp2 NA18906.hp1 HG01109.hp1 HG03098.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017	3	172	0.0174	-41	c.301 others(60): Show c.301-20083_301-20043delCTGCACATGCTTTGTTTTGTTTGTTT TTTGTAGACAGGGTC	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCDH7_chr4_30715369_31151800	31056417	AAAGAAGG others(34): Show AAAGAAGGAAAGAAAAAGAAAGAAGGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03471.hp1 HG02280.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0041 a0001c0001t0001 a0001c0001t0041	a0001c0001t0001g0012 a0001c0001t0041g0009 a0001c0001t0001g0012 a0001c0001t0041g0009	2	214	0.0093	-41	c.339 others(62): Show c.3392-86050_3392-86010delGGAAAGAAAAAGAAAGAAGGAAAG AAAGAAAGAAAGAAGAA	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH7_chr4_30715369_31151800	31056482	AAAGAAAG others(34): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00609.hp1 others(12): Show HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG01496.hp1 HG02015.hp1 HG02083.hp1 HG02155.hp1 HG02683.hp1 HG04184.hp2 NA18953.hp2 NA18966.hp2 NA18990.hp2 NA19070.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0025 a0001c0002t0001	a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0003g0079 others(12): Show a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0003g0079 a0001c0001t0003g0092 a0001c0001t0003g0100 a0001c0001t0004g0172 a0001c0001t0005g0022 a0001c0001t0005g0033 a0001c0001t0005g0038 a0001c0001t0008g0026 a0001c0001t0008g0042 a0001c0001t0012g0037 a0001c0001t0015g0001 a0001c0001t0025g0028 a0001c0002t0001g0134	15	214	0.0701	-41	c.339 others(62): Show c.3392-85990_3392-85950delAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGGGGAAG	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2			chr4	TogoVar
PCSK2_chr20_17222040_17489578	17347851	AGAAAGAA others(34): Show AGAAAGAAAGAGGAGAGAGAAAAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG02717.hp2 others(3): Show HG00099.hp2 HG00642.hp2 HG02717.hp2 HG03041.hp2 HG03195.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0051	a0001c0001t0003g0002 a0001c0001t0006g0081 a0001c0001t0011g0009 others(3): Show a0001c0001t0003g0002 a0001c0001t0006g0081 a0001c0001t0011g0009 a0001c0001t0011g0021 a0001c0001t0011g0023 a0001c0001t0051g0134	6	270	0.0222	-41	c.283 others(60): Show c.283-10475_283-10435delGAAAGAAAGAGGAGAGAGAAAAAAGA AAGAAAGAAAGAAAG	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	2/11			chr20	TogoVar
PCSK2_chr20_17222040_17489578	17347855	AGAAAGAG others(34): Show AGAAAGAGGAGAGAGAAAAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02074.hp1 NA18980.hp2 others(1): Show HG01934.hp2 HG02074.hp1 NA18980.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 others(1): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0047	a0001c0001t0006g0226 a0001c0001t0007g0080 a0001c0001t0013g0234 others(1): Show a0001c0001t0006g0226 a0001c0001t0007g0080 a0001c0001t0013g0234 a0001c0001t0047g0233	4	264	0.0152	-41	c.283 others(60): Show c.283-10471_283-10431delGAAAGAGGAGAGAGAAAAAAGAAAGA AAGAAAGAAAGAAAG	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	2/11			chr20	TogoVar
PDGFB_chr22_39218359_39249982	39247876	AAAAAAAA others(34): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	340	0.0029	-41	c.-39 others(52): Show c.-3954_-3914delATATATATATATATATATATATATATATTTTTTT TTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2895		chr22	TogoVar
PDIA2_chr16_278164_292215	285902	TCCCAACC others(34): Show TCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01255.hp1 HG00642.hp2 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	2	407	0.0049	-41	c.111 others(58): Show c.1119+232_1119+272delAACCCCAACCCCAACCCCAACCCCGCGG TTCTCCCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDK2_chr17_50090351_50117152	50092635	GTCTCAGT others(34): Show GTCTCAGTCAGTTACCCAGATTGGAGTGCCGTGGCACAATCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG03579.hp2 HG03831.hp2 others(1): Show HG02738.hp1 HG03579.hp2 HG03831.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0028 a0001c0002t0008g0069 a0001c0002t0008g0071 others(1): Show a0001c0002t0008g0028 a0001c0002t0008g0069 a0001c0002t0008g0071 a0001c0002t0008g0072	4	396	0.0101	-41	c.-28 others(52): Show c.-2800_-2760delTCTCAGTCAGTTACCCAGATTGGAGTGCCGTGGC ACAATCA	PDK2	ENSG00000005882.12	transcript	ENST00000503176.6	protein_coding		2715		chr17	TogoVar
PDSS2_chr6_107147562_107464564	107363961	TTGAGCTA others(34): Show TTGAGCTAGATACAGAGTGCCGATTGGTGTATTTGCAATCCC	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	258	0.0039	-41	c.297 others(60): Show c.297-29670_297-29630delGGGATTGCAAATACACCAATCGGCAC TCTGTATCTAGCTCA	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PEPD_chr19_33381950_33526791	33393197	CGGGGTCT others(34): Show CGGGGTCTGGGGTCTGGCGTCGGGGAGGCCGTCCCGGGGTCT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	312	0.0032	-41	c.968 others(58): Show c.968-1759_968-1719delAGACCCCGGGACGGCCTCCCCGACGCCA GACCCCAGACCCC	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	12/14			chr19	TogoVar
PEX2_chr8_76975258_77005078	77002327	TAATTTGT others(34): Show TAATTTGTTCATTAACTATGAGAAGTTAAAGAAGAAAAATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	410	0.0024	-41	c.-25 others(52): Show c.-2538_-2498delTAATTTTTCTTCTTTAACTTCTCATAGTTAATGA ACAAATT	PEX2	ENSG00000164751.15	transcript	ENST00000357039.9	protein_coding		2250		chr8	TogoVar
PFKP_chr10_3062548_3141802	3078954	AAAAGTGT others(34): Show AAAAGTGTGGTGCCCCCATCACCTGGAAATTGCTAGAAATGC	A A	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0317 a0001c0001t0003g0317	1	400	0.0025	-41	c.113 others(58): Show c.113-3431_113-3391delAGTGTGGTGCCCCCATCACCTGGAAATT GCTAGAAATGCAA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr10	TogoVar

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