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
MEGF6_chr1_3482951_3616508	3587876	C C	CCAGGAGG others(180): Show CCAGGAGGGGACAGGAGTGGCTAGGAGGAGACAGGACCGGCCAGGAGTGG CCAGGAGTGGACAGGAGGAGACAGGAGGGGACAGGAGTGGATAGGAGGAG ATAGGAGGGGACAGGAGTGGACAGAAGGAGACAGGAGGGGACAGGAGTGG ACAGGAGACAGGAGGGGACAGGAATGGCCAAGAGGGGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0098 a0098	a0098c0122 a0098c0122	a0098c0122t0009 a0098c0122t0009	a0098c0122t0009g0244 a0098c0122t0009g0244	1	202	0.0050	187	c.376 others(204): Show c.376+7461_376+7462insTCCCCTCTTGGCCATTCCTGTCCCCTCC TGTCTCCTGTCCACTCCTGTCCCCTCCTGTCTCCTTCTGTCCACTCCTGT CCCCTCCTATCTCCTCCTATCCACTCCTGTCCCCTCCTGTCTCCTCCTGT CCACTCCTGGCCACTCCTGGCCGGTCCTGTCTCCTCCTAGCCACTCCTGT CCCCTCCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MGAT4C_chr12_85950667_86261391	86110268	C C	CTATATAT others(180): Show CTATATATATATATAGACTATATATATATATAGTCTATATATATATAGTC TATATATATAGTCTATATATATATAGACTATATATATAGTCTATATATAT ATAGTCTATATATATAGTCTATATATATAGTCTATATATATAGTCTATAT ATATAGTCTATATATATATAGACTATATATATAGACTA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01243.hp1 HG00733.hp2 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0036 a0001c0001t0035 a0001c0001t0036	a0001c0001t0035g0011 a0001c0001t0036g0009 a0001c0001t0035g0011 a0001c0001t0036g0009	2	42	0.0476	187	c.-56 others(206): Show c.-56-60546_-56-60545insTAGTCTATATATATAGTCTATATATA TATAGACTATATATATAGACTATATATATAGACTATATATATAGACTATA TATATAGACTATATATATATAGACTATATATATAGTCTATATATATATAG ACTATATATATAGACTATATATATATAGACTATATATATATATAGTCTAT ATATATATATA	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MGAT4C_chr12_85950667_86261391	86110268	C C	CTATATAT others(180): Show CTATATATATATATAGACTATATATATATATAGTCTATATATATATAGTC TATATATATAGTCTATATATATATAGTCTATATATATAGTCTATATATAT ATAGTCTATATATATAGTCTATATATATAGTCTATATATATAGTCTATAT ATATAGTCTATATATATATAGACTATATATATAGACTA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01433.hp2 HG02293.hp2 HG00642.hp2 HG01433.hp2 HG02293.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0006 a0002c0003t0030 a0001c0001t0006 a0002c0003t0030	a0001c0001t0006g0002 a0001c0001t0006g0008 a0002c0003t0030g0005 a0001c0001t0006g0002 a0001c0001t0006g0008 a0002c0003t0030g0005	3	43	0.0698	187	c.-56 others(206): Show c.-56-60546_-56-60545insTAGTCTATATATATAGTCTATATATA TATAGACTATATATATAGACTATATATATAGACTATATATATAGACTATA TATATAGACTATATATATATAGACTATATATATAGACTATATATATATAG ACTATATATATAGACTATATATATATAGACTATATATATATATAGTCTAT ATATATATATA	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MGAT4C_chr12_85950667_86261391	86110297	T T	TATATATA others(180): Show TATATATATAGTCTATATATATATAGTCTATATATATATAGTCTATATAT ATAGTCTATATATATATAGTCTATATATATATAGTCTATATATATAGTCT ATATATATATAGTCTATATATATATAGTCTATATATATAGTCTATATATA TATAGTCTATATATATATATAGTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0151 a0001c0001t0021g0151	1	161	0.0062	187	c.-56 others(206): Show c.-56-60575_-56-60574insTATATATATATATAGACTATATATAT ATATAGACTATATATATATAGACTATATATATAGACTATATATATATAGA CTATATATATATAGACTATATATATAGACTATATATATATAGACTATATA TATATAGACTATATATATAGACTATATATATATAGACTATATATATATAG ACTATATATAT	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MGAT4C_chr12_85950667_86261391	86110302	A A	ATATAGTC others(180): Show ATATAGTCTATATATATATAGTCTATATATATATAGACACTATATATATA GTCTATATATATATAGTCTATATATATATATAGTCTATATATATATAGTC TATATATATATATAGTCTATATATATAGTCTATATATATAGTCTATATAT ATATAGTCTATATATATATAGTCTATATATATATAGTC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0054 a0001c0002t0054	a0001c0002t0054g0091 a0001c0002t0054g0091	1	138	0.0072	187	c.-56 others(206): Show c.-56-60580_-56-60579insGACTATATATATATAGACTATATATA TATAGACTATATATATATAGACTATATATATAGACTATATATATAGACTA TATATATATATAGACTATATATATATAGACTATATATATATATAGACTAT ATATATATAGACTATATATATAGTGTCTATATATATATAGACTATATATA TATAGACTATA	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MLIP_chr6_54106443_54271280	54251553	A A	ATAATATA others(180): Show ATAATATATAGTATATATATTATATATTTATATATTTATATATAATTTAT ATATAATATATATTATATAATATATAATATATTATATTATATATTATATA ATATATAATATTATATATAATAACATAATATATAATATAAATATATATTA TAGCATATAATATAAATATATATTATAGCATATAATAT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0174 a0003c0002t0001g0174	1	172	0.0058	187	c.292 others(206): Show c.2923-5755_2923-5754insTAATATATAGTATATATATTATATAT TTATATATTTATATATAATTTATATATAATATATATTATATAATATATAA TATATTATATTATATATTATATAATATATAATATTATATATAATAACATA ATATATAATATAAATATATATTATAGCATATAATATAAATATATATTATA GCATATAATAT	MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding	12/13			chr6	TogoVar
MROH2A_chr2_233773330_233838418	233790452	C C	CCTTCCTT others(180): Show CCTTCCTTCCTCCCTCCCCCCCTTCCTTCCTCCCTCCCCCCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTTTCCTTTTTAATTGCCTGCCTTACTTACTC CTTCCTCTCCCTCCCCCTTTTTCTCCTTCTTCCCTCCCTTCCTCCCTTCC TCCATCCCACCCTTCCTTCCTCCCCTCTTTTCTTCTCT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0051 a0051	a0051c0064 a0051c0064	a0051c0064t0001 a0051c0064t0001	a0051c0064t0001g0012 a0051c0064t0001g0012	1	301	0.0033	187	c.571 others(202): Show c.571+439_571+440insTTCCTTCCTCCCTCCCCCCCTTCCTTCCTC CCTCCCCCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTTTCCTTTTTAAT TGCCTGCCTTACTTACTCCTTCCTCTCCCTCCCCCTTTTTCTCCTTCTTC CCTCCCTTCCTCCCTTCCTCCATCCCACCCTTCCTTCCTCCCCTCTTTTC TTCTCTC	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	5/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPL28_chr16_361969_375538	370393	A A	ACCCCGGC others(180): Show ACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGC TACCCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCC GCTACCCCGGCCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCA CCCCGCTACCCCCCGGCCCCCGGGCTCTCACTCCCTAC	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	388	0.0026	187	c.-8+ others(200): Show c.-8+105_-8+106insGTAGGGAGTGAGAGCCCGGGGGCCGGGGGGTA GCGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGC CGGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MSH4_chr1_75791882_75918242	75886464	A A	ATATTATA others(180): Show ATATTATATATAATATATATGATGCATTATATATTATATATAATATATAT GATGTATTATATATTATATATAATATATATGATGTATTATATATTATATA TAATATATATGATGTATTATATATTATATATAATATATATGATGTATTAT ATATTATATATAATATATATGATGTATTATATATGATG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01361.hp1 HG01358.hp2 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0324 a0001c0002t0001g0325	2	258	0.0078	187	c.210 others(206): Show c.2107+2666_2107+2667insCATTATATATTATATATAATATATAT GATGTATTATATATTATATATAATATATATGATGTATTATATATTATATA TAATATATATGATGTATTATATATTATATATAATATATATGATGTATTAT ATATTATATATAATATATATGATGTATTATATATGATGTATTATATATAA TATATATGATG	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSLN_chr16_755734_773862	767940	C C	CGCGTGGA others(180): Show CGCGTGGAGGGGGGAGCGTGGGGGGGCGTGGAGGGGGCCGCGTGGAGGGG GGGCGCGTGGAGGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGGCG CGTGGAGGGGGGAGCGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGG GCGCGTGGGGGGGCGCGTGGGGGGGCGTGGAGGGGGGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0214 a0002c0003t0004g0214	1	351	0.0028	187	c.159 others(204): Show c.1597-430_1597-429insGGGGAGCGTGGGGGGGCGTGGAGGGGGC CGCGTGGAGGGGGGGCGCGTGGAGGGGGGGCGCGTGGAGGAGGGGCGCGT GGAGGGGGGGCGCGTGGAGGGGGGAGCGTGGGGGGGCGTGGAGGAGGGGC GCGTGGAGGGGGGCGCGTGGGGGGGCGCGTGGGGGGGCGTGGAGGGGGGT GCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSRB3_chr12_65273683_65471907	65396696	A A	AGAAAGAA others(180): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0141 a0001c0001t0013g0141	1	308	0.0032	187	c.292 others(206): Show c.292+27670_292+27671insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGA AAGAAAGAAAG	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6			chr12	TogoVar
MUC4_chr3_195741771_195816929	195816436	C C	CGCCCAGC others(180): Show CGCCCAGCCTGGCCTCCGCCCTTCTCCTTACCAGGTGCCACATCCTCCTG CCCAGCCTGGCCTCCGCCCTTCCCCTTACCAGGTGCCACATCCTCCTGCC CGGCCCGGCCTCCTTCTCCTTACCAGGTGCCACATCCTCCGCCCAGCCTG GCCTCCGCCCTTCTCCTTACCAGGTGCCACATCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0061 a0061	a0061c0045 a0061c0045	a0061c0045t0001 a0061c0045t0001	a0061c0045t0001g0078 a0061c0045t0001g0078	1	93	0.0108	187	c.-46 others(198): Show c.-4620_-4619insAGGAGGATGTGGCACCTGGTAAGGAGAAGGGCGG AGGCCAGGCTGGGCGGAGGATGTGGCACCTGGTAAGGAGAAGGAGGCCGG GCCGGGCAGGAGGATGTGGCACCTGGTAAGGGGAAGGGCGGAGGCCAGGC TGGGCAGGAGGATGTGGCACCTGGTAAGGAGAAGGGCGGAGGCCAGGCTG GGC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding		4508		chr3	TogoVar
MUC4_chr3_195741771_195816929	195816436	C C	CGCCCAGC others(180): Show CGCCCAGCCTGGCCTCCGCCCTTCTCCTTACCAGGTGCCACATCCTCCTG CCCAGCCTGGCCTCCGCCCTTCTCCTTACCAGGTGCCACATCCTCCTGCC CGGCCCGGCCTCCTTCTCCTTACCAGGTGCCACATCCTCCGCCCAGCCTG GCCTCCGCCCTTCTCCTTACCAGGTGCCACATCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00423.hp1 others(87): Show HG00099.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01192.hp1 HG01261.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01891.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02257.hp2 HG02486.hp2 HG02895.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03225.hp1 HG03491.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04199.hp2 HG04228.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp2 NA18955.hp2 NA18960.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19055.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19086.hp1 NA19090.hp1 NA19091.hp2	a0001 a0003 a0005 others(36): Show a0001 a0003 a0005 a0007 a0009 a0010 a0011 a0012 a0014 a0018 a0022 a0023 a0025 a0026 a0030 a0031 a0032 a0048 a0051 a0052 a0056 a0067 a0079 a0082 a0085 a0089 a0099 a0100 a0104 a0106 a0107 a0108 a0109 a0110 a0112 a0113 a0115 a0116 a0118	a0001c0001 a0001c0003 a0001c0007 others(59): Show a0001c0001 a0001c0003 a0001c0007 a0001c0018 a0001c0019 a0001c0021 a0001c0028 a0001c0037 a0001c0047 a0001c0052 a0001c0062 a0001c0064 a0001c0067 a0001c0075 a0001c0076 a0001c0086 a0001c0091 a0003c0006 a0005c0014 a0005c0060 a0007c0017 a0007c0072 a0007c0100 a0009c0061 a0009c0098 a0010c0010 a0010c0029 a0011c0058 a0011c0059 a0012c0013 a0014c0012 a0018c0050 a0022c0020 a0023c0041 a0023c0094 a0025c0081 a0026c0048 a0030c0096 a0031c0063 a0032c0077 a0048c0040 a0051c0087 a0052c0054 a0056c0068 a0067c0120 a0079c0133 a0082c0112 a0085c0095 a0089c0110 a0099c0132 a0100c0128 a0104c0084 a0106c0085 a0107c0057 a0108c0101 a0109c0030 a0110c0026 a0112c0042 a0113c0080 a0115c0134 a0116c0039 a0118c0082	a0001c0001t0001 a0001c0001t0016 a0001c0003t0001 others(60): Show a0001c0001t0001 a0001c0001t0016 a0001c0003t0001 a0001c0007t0002 a0001c0018t0001 a0001c0019t0002 a0001c0021t0001 a0001c0028t0001 a0001c0037t0001 a0001c0047t0001 a0001c0052t0001 a0001c0062t0001 a0001c0064t0001 a0001c0067t0001 a0001c0075t0001 a0001c0076t0001 a0001c0086t0001 a0001c0091t0001 a0003c0006t0003 a0005c0014t0001 a0005c0060t0002 a0007c0017t0010 a0007c0072t0001 a0007c0100t0001 a0009c0061t0001 a0009c0098t0001 a0010c0010t0001 a0010c0029t0001 a0011c0058t0001 a0011c0059t0001 a0012c0013t0001 a0014c0012t0002 a0018c0050t0001 a0022c0020t0001 a0023c0041t0002 a0023c0094t0002 a0025c0081t0001 a0026c0048t0001 a0030c0096t0001 a0031c0063t0001 a0032c0077t0001 a0048c0040t0001 a0051c0087t0001 a0052c0054t0001 a0056c0068t0001 a0067c0120t0006 a0079c0133t0001 a0082c0112t0001 a0085c0095t0001 a0089c0110t0001 a0099c0132t0001 a0100c0128t0002 a0104c0084t0001 a0106c0085t0001 a0107c0057t0001 a0108c0101t0001 a0109c0030t0001 a0110c0026t0001 a0112c0042t0001 a0113c0080t0001 a0115c0134t0001 a0116c0039t0001 a0118c0082t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(86): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0016g0245 a0001c0003t0001g0083 a0001c0003t0001g0105 a0001c0003t0001g0116 a0001c0007t0002g0020 a0001c0007t0002g0038 a0001c0007t0002g0039 a0001c0018t0001g0084 a0001c0019t0002g0136 a0001c0019t0002g0137 a0001c0021t0001g0055 a0001c0028t0001g0197 a0001c0037t0001g0100 a0001c0047t0001g0063 a0001c0052t0001g0113 a0001c0062t0001g0069 a0001c0064t0001g0128 a0001c0067t0001g0129 a0001c0075t0001g0109 a0001c0076t0001g0110 a0001c0086t0001g0118 a0001c0091t0001g0138 a0003c0006t0003g0104 a0003c0006t0003g0106 a0005c0014t0001g0081 a0005c0014t0001g0097 a0005c0060t0002g0075 a0007c0017t0010g0005 a0007c0017t0010g0006 a0007c0072t0001g0115 a0007c0100t0001g0111 a0009c0061t0001g0070 a0009c0098t0001g0013 a0010c0010t0001g0121 a0010c0010t0001g0122 a0010c0029t0001g0120 a0011c0058t0001g0080 a0011c0059t0001g0079 a0012c0013t0001g0087 a0012c0013t0001g0090 a0014c0012t0002g0062 a0018c0050t0001g0041 a0022c0020t0001g0093 a0023c0041t0002g0077 a0023c0094t0002g0092 a0025c0081t0001g0127 a0026c0048t0001g0096 a0030c0096t0001g0017 a0031c0063t0001g0200 a0032c0077t0001g0095 a0048c0040t0001g0135 a0051c0087t0001g0015 a0052c0054t0001g0094 a0056c0068t0001g0125 a0067c0120t0006g0029 a0079c0133t0001g0016 a0082c0112t0001g0019 a0085c0095t0001g0139 a0089c0110t0001g0018 a0099c0132t0001g0032 a0100c0128t0002g0119 a0104c0084t0001g0102 a0106c0085t0001g0117 a0107c0057t0001g0086 a0108c0101t0001g0126 a0109c0030t0001g0107 a0110c0026t0001g0089 a0112c0042t0001g0131 a0113c0080t0001g0103 a0115c0134t0001g0132 a0116c0039t0001g0112 a0118c0082t0001g0101	90	182	0.4945	187	c.-46 others(198): Show c.-4620_-4619insAGGAGGATGTGGCACCTGGTAAGGAGAAGGGCGG AGGCCAGGCTGGGCGGAGGATGTGGCACCTGGTAAGGAGAAGGAGGCCGG GCCGGGCAGGAGGATGTGGCACCTGGTAAGGAGAAGGGCGGAGGCCAGGC TGGGCAGGAGGATGTGGCACCTGGTAAGGAGAAGGGCGGAGGCCAGGCTG GGC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding		4508		chr3	TogoVar
MVP_chr16_29815462_29853021	29843574	G G	GAGGGAGG others(180): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGAAGGG AGGAAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGA GGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0220 a0001c0009t0001g0220	1	183	0.0055	187	c.163 others(204): Show c.1635-912_1635-911insGAGGGAGGGAGGGAGGGAGTGAAGGGAG GGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGG GAGGAAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGG AGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAG GAAGGGAGG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYOM2_chr8_2040046_2150456	2085542	G G	GCCCACCG others(180): Show GCCCACCGCTGTCGTGATCTCCGCGTGGCCCCTCACTGTCGTGATCTCTG CGTGGCCCCCTACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTC TTTGTGGCCCCCCACTGTTGTGATCTTTGCATGGCCCCACTGTCATGATC TCTGTGTGGCACCCCACTGTCGTGATCTCCGCGTGGCC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0017 a0017	a0017c0075 a0017c0075	a0017c0075t0002 a0017c0075t0002	a0017c0075t0002g0245 a0017c0075t0002g0245	1	381	0.0026	187	c.164 others(204): Show c.1644+155_1644+156insACCGCTGTCGTGATCTCCGCGTGGCCCC TCACTGTCGTGATCTCTGCGTGGCCCCCTACTGTTGTGATCTCTGCGTGG CCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTTTGCAT GGCCCCACTGTCATGATCTCTGTGTGGCACCCCACTGTCGTGATCTCCGC GTGGCCCCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NAGK_chr2_71063648_71084808	71081025	T T	TTTATTTT others(180): Show TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATATTTT ATTTTATTTTATTTTATTTTATTTTATTTCATTTCATTTCATTTTATTTC ATTTCATTTCATTTTATTTGATTTTATTTTATATTTGATTTGATTTGATT TGATTTGATTTGATTTGATTTGATTTGATTTGATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0009 a0001c0004t0004g0009	1	428	0.0023	187	c.25 others(198): Show c.2517_*2518insTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATATTTTATTTTATTTTATTTTATTTTATTTTATTTCATTTC ATTTCATTTTATTTCATTTCATTTCATTTTATTTGATTTTATTTTATATT TGATTTGATTTGATTTGATTTGATTTGATTTGATTTGATTTGATTTGATT TTA	NAGK	ENSG00000124357.13	transcript	ENST00000244204.11	protein_coding		1218		chr2	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCCC others(180): Show CCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCC CCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCC CGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCC CGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0087 a0001c0016t0001g0087	1	86	0.0116	187	c.-41 others(198): Show c.-4100_-4099insCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCC GGGCTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTC CACACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCA CACCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCC CCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NCLN_chr19_3180930_3214575	3182063	G G	GTTTTTTT others(180): Show GTTTTTTTCTTCCTCTTTCTCTTTTCTCTCTGCCTCTTCTCTTATTACTG TCTCTCTCTCTTCCTCCTGAGTTTGATCATTTCCTTTCTTCCTCTCTTCT TTCTGATTCTCCTTTCTTGTATTTCTCTCTCTTCTCTTCCCCTTTTTATG CTCCTATCTCCTCTTCCCTCTCTTTCTCTTGCTTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0130 a0001c0001t0006g0130	1	408	0.0025	187	c.-39 others(198): Show c.-3968_-3967insTTTTTTTCTTCCTCTTTCTCTTTTCTCTCTGCCT CTTCTCTTATTACTGTCTCTCTCTCTTCCTCCTGAGTTTGATCATTTCCT TTCTTCCTCTCTTCTTTCTGATTCTCCTTTCTTGTATTTCTCTCTCTTCT CTTCCCCTTTTTATGCTCCTATCTCCTCTTCCCTCTCTTTCTCTTGCTTT TCT	NCLN	ENSG00000125912.11	transcript	ENST00000246117.9	protein_coding		3866		chr19	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(180): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAG ACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGAC AGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0201 a0002c0005t0001g0201	1	250	0.0040	187	c.319 others(202): Show c.319+282_319+283insCTTTCTTTCTTTCTGTCTTTCTTTCTGTCT TTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTT CTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTGTCTTT CTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55931710	A A	AAAGAAAG others(180): Show AAAGAAAGAAAGACAGAAAGAAAGAAAGAAAGACAGAAAGAAAGAAAGAA AGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGAA AGAAAGACAGAAAGAAAGACAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0064 a0002c0003t0001g0064	1	250	0.0040	187	c.319 others(202): Show c.319+282_319+283insCTTTCTTTCTTTCTTTCTGTCTTTCTTTCT GTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGTCTTTCTTTCTGT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTGTCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCTTTCTGTCTTT CTTTCTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993581	T T	TCCCCCTC others(180): Show TCCCCCTCCGCCCCTCCCCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCTCCTCCTCCCCTCCTCTCCTCCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0025 a0025	a0025c0047 a0025c0047	a0025c0047t0006 a0025c0047t0006	a0025c0047t0006g0003 a0025c0047t0006g0003	1	324	0.0031	187	c.56 others(198): Show c.5668_*5669insCCCCCTCCGCCCCTCCCCCCCCCTCCCCTCCCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCTCCTCCTCCCCTCCTCTCCTCCC CTC	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4953		chr19	TogoVar
NOP14_chr4_2932936_2968406	2961041	T T	TATAGTAA others(180): Show TATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTA TATTAATATATACTAACTATATTATTAATATAGTTACTATATATTAATAT ATAGTAACTATATTAATAATATAGTTACTATATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0015 a0009c0008t0015	a0009c0008t0015g0053 a0009c0008t0015g0053	1	296	0.0034	187	c.195 others(204): Show c.195+2083_195+2084insGTTACTATATATTAATATACTAACTATA TTATTAATATAGTTACTATATATTAATATATAGTAACTATATTATTAATA TAGTTACTATATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATAT AGTTACTAT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NXN_chr17_794310_984776	948826	G G	GGCCTCCT others(180): Show GGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGTGGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCC TGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	222	0.0045	187	c.360 others(206): Show c.360+30492_360+30493insAGGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAG GGGGGAGAGGAGGAGGCCACGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGA GAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948996	G G	GGCCTCCT others(180): Show GGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC TGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	130	0.0077	187	c.360 others(206): Show c.360+30322_360+30323insAGGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCA CGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGG AGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949088	C C	CCGGCCTC others(180): Show CCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCT CTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCTGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC CTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	204	0.0049	187	c.360 others(206): Show c.360+30230_360+30231insCGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGA GGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGA GGAGGAGGCCG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
P2RY8_chrX_1457581_1542185	1468904	T T	TCCCCTCT others(180): Show TCCCCTCTCCCCTCTCCCCTCTCTCCTCTCCCCTCTCCCCTCCCCTTCCC TCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCCTTCCCT CTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCT CCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	79	0.0127	187	c.-24 others(204): Show c.-24-2323_-24-2322insGGAGGGGAGAGGGGAGAGGGAAGGGGAG GGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGG GAGAGGGGAGAGGGAAGGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGG AGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGAGAGAGGGGAGAGG GGAGAGGGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1468904	T T	TCCCCTCT others(180): Show TCCCCTCTCCCCTCTCCCCTCTCTCCTCTCCCCTCTCCCCTCCCCTTCCC TCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTC TCCCCTCTCCCCCTCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTC CCCTCTCCCCTCCCCTTTCCCTCTCCCCTCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	79	0.0127	187	c.-24 others(204): Show c.-24-2323_-24-2322insGGAGGGGAGAGGGGAGAGGGAAAGGGGA GGGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGAGGG GGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGG AGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGAGAGAGGGGAGAGG GGAGAGGGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1468904	T T	TCCCCTCT others(180): Show TCCCCTCTCCCCTCTCCCCTCTCTCCTCTCCCCTCTCCCCTCCCCTTCCC TCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTC TCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCCTCT CCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	79	0.0127	187	c.-24 others(204): Show c.-24-2323_-24-2322insGGAGGGGAGAGGGGAGAGGGAAGGGGAG GGGAGAGGGGAGAGGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGG GGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGG AGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGAGAGAGGGGAGAGG GGAGAGGGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PAK2_chr3_196734857_196837647	196811266	T T	TTCCCTCC others(180): Show TTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCT CCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTT CCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTC CTTCCTTCCCTTCCCTCCCTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0011 a0001c0001t0047g0011	1	155	0.0065	187	c.773 others(202): Show c.773+618_773+619insCCCTTCCTTCCCTTCCCTCCCTTCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCCT CCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCTTT CCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTTCCCTTC CCTCCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAPPA_chr9_116148791_116407321	116289379	A A	AGCATATA others(180): Show AGCATATATATGGCATATATATGGCATATATATAGCATATATATGGCATA TATATGGCATATATATGCCATATATATAGCATATATATGGCATATATATG GCATATATATAGCATATATATGGCATATATATGGCATATATATAGCATAT ATATGGCATATATATGCCATATATATAGCATATATATG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01168.hp2 HG01106.hp2 HG01168.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0066 a0002c0003t0002g0067 a0002c0003t0002g0066 a0002c0003t0002g0067	2	201	0.0100	187	c.295 others(208): Show c.2954-13372_2954-13371insATATGGCATATATATGGCATATAT ATAGCATATATATGGCATATATATGGCATATATATGCCATATATATAGCA TATATATGGCATATATATGGCATATATATAGCATATATATGGCATATATA TGGCATATATATAGCATATATATGGCATATATATGCCATATATATAGCAT ATATATGGCATAT	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PDE6B_chr4_620573_675782	660975	A A	AAATGGAT others(180): Show AAATGGATGGATGGGTGGGTGGGCCAATGGTAGTTGGATAGTTGGATAAA TGGATGGATGGGTGGGTGGGCCATGGTAGTTGGATGGTTGGATAAATTGA TGGATGGGTGGGTGGGCGGGCCAATGGTAGTTGGATGGTTGGATAAATGG ATGGATGGGTGGGTGGGTGGGCCAATGGTAGTTGGATG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 NA19240.hp1 HG02572.hp2 HG02630.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0005 a0005c0011 a0001c0005 a0005c0011	a0001c0005t0001 a0005c0011t0001 a0001c0005t0001 a0005c0011t0001	a0001c0005t0001g0204 a0005c0011t0001g0251 a0005c0011t0001g0252 a0001c0005t0001g0204 a0005c0011t0001g0251 a0005c0011t0001g0252	3	7	0.4286	187	c.161 others(204): Show c.1614+362_1614+363insAATGGATGGATGGGTGGGTGGGCCAATG GTAGTTGGATAGTTGGATAAATGGATGGATGGGTGGGTGGGCCATGGTAG TTGGATGGTTGGATAAATTGATGGATGGGTGGGTGGGCGGGCCAATGGTA GTTGGATGGTTGGATAAATGGATGGATGGGTGGGTGGGTGGGCCAATGGT AGTTGGATG	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	12/21			chr4	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(180): Show CAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GGAAAAGAAAAGAAAAAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0201 a0002c0006t0001g0201	1	202	0.0050	187	c.20- others(202): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTTTTTCTTT TCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PERM1_chr1_970198_987093	977065	C C	CCAACCCC others(180): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC CTCCCACTCCCCCCACCACCCGGGAACCGCCTCCCACTCCCCCCACCAAC CCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	169	0.0059	187	c.215 others(204): Show c.2150-442_2150-441insCGGGGGGAGTGGGAGGCGGTTCCCGGGG GTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGCGGGGGCAGGC GGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGTGGTGGGG GGAGTGGGAGGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTC CCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977845	C C	CCACCAAC others(180): Show CCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCG CCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACCCCCCCG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0178 a0001c0001t0005g0178	1	222	0.0045	187	c.214 others(206): Show c.2149+1035_2149+1036insCGGGGGGGTGGGAGGCGGTTCCCGGG GTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTGGTGGG GGGAGTGGGAGGCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCGGTTCC CGGGGTTGGTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PGAP6_chr16_365788_386978	370393	A A	ACCCCGGC others(180): Show ACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGC TACCCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCC GCTACCCCGGCCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCA CCCCGCTACCCCCCGGCCCCCGGGCTCTCACTCCCTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0153 a0001c0001t0019g0153	1	371	0.0027	187	c.15 others(198): Show c.1593_*1594insGTAGGGAGTGAGAGCCCGGGGGCCGGGGGGTAGC GGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		394		chr16	TogoVar
PJA2_chr5_109329722_109414974	109340634	C C	CTCCCTCT others(180): Show CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0061 a0003c0003t0002g0061	1	339	0.0029	187	c.200 others(206): Show c.2002-3279_2002-3278insAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGA	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCCCCC others(180): Show GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCTCTCCG GTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03704.hp2 HG00741.hp2 HG03704.hp2	a0003 a0003	a0003c0007 a0003c0016 a0003c0007 a0003c0016	a0003c0007t0001 a0003c0016t0001 a0003c0007t0001 a0003c0016t0001	a0003c0007t0001g0037 a0003c0016t0001g0028 a0003c0007t0001g0037 a0003c0016t0001g0028	2	83	0.0241	187	c.575 others(208): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGCTTTGGAGCCTCTCTA AAAGGGCTCTGTACCGGAGAGGGAGAGGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGGAG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PLEKHN1_chr1_961482_980865	964630	G G	GGGCGGGT others(180): Show GGGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGC AGTGGGGCTGTGGGAGGGGTCCGCGCGTCCGCAGTGGGGATGTGCTGCGG GGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGC GGGTCCGCAGTGGGGCTGTGCTGCGGGAAGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0009 a0001c0009t0009	a0001c0009t0009g0016 a0001c0009t0009g0016	1	208	0.0048	187	c.-19 others(198): Show c.-1902_-1901insGGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGG GGGGCGCGGGTCCGCAGTGGGGCTGTGGGAGGGGTCCGCGCGTCCGCAGT GGGGATGTGCTGCGGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTG CCGGGAGGGGGGCGCGGGTCCGCAGTGGGGCTGTGCTGCGGGAAGGGGGG GGC	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1851		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977065	C C	CAACCCCG others(180): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCC GGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTC CCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	185	0.0054	187	c.24 others(198): Show c.2490_*2491insAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCC CCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1201		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977065	C C	CCAACCCC others(180): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC CTCCCACTCCCCCCACCACCCGGGAACCGCCTCCCACTCCCCCCACCAAC CCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	185	0.0054	187	c.24 others(198): Show c.2490_*2491insCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCCTCCCACTCCCCCCACCACCCGGGAACCGCCTCCC ACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCCGGGAACCGCCTCCCACTCCCC CCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1201		chr1	TogoVar
PLXNB2_chr22_50269979_50312646	50274664	C C	CCCCCAGC others(180): Show CCCCCAGCACCCCTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAGC CCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACTTCCCCCCA GCACCCCTCCCAGCCCCCTCCACCTCCCCCAGCTCCCCTCCCAGCCCCCT CCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02976.hp2 HG02922.hp1 HG02976.hp2	a0015 a0015	a0015c0037 a0015c0037	a0015c0037t0007 a0015c0037t0007	a0015c0037t0007g0007 a0015c0037t0007g0007	2	300	0.0067	187	c.10 others(198): Show c.1039_*1040insAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAG GTGGAGGGGGCTGGGAGGGGAGCTGGGGGAGGTGGAGGGGGCTGGGAGGG GTGCTGGGGGGAAGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGA GGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTG GGG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		314		chr22	TogoVar
PNPLA1_chr6_36265060_36318955	36275973	T T	TTTCTTTC others(180): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0376 a0003c0007t0001g0376	1	384	0.0026	187	c.205 others(204): Show c.205+5311_205+5312insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTCTT	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRDM16_chr1_3064203_3443621	3287553	C C	CCCCGCCA others(180): Show CCCCGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGGCGCCC CGCCACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCCCCGC CACGCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCCCCGCCAC GCGGGCATCCAGGATTGCATTTACCGGGGCTGGAGCCG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0124 a0001c0001t0042g0124	1	201	0.0050	187	c.438 others(206): Show c.438+43419_438+43420insGCCACGCGGGCATCCAGGATTGCATT TACCGGGGCTGGAGGCGCCCCGCCACGCGGGCATCCAGGATTGCATTTAC CGGGGCTGGAGCCGCCCCGCCACGCGGGCATCCAGGATTGCATTTACCGG GGCTGGAGCCGCCCCGCCACGCGGGCATCCAGGATTGCATTTACCGGGGC TGGAGCCGCCC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151855030	T T	TGCTCCAC others(180): Show TGCTCCACACACCACCCTCCACACACCACCCTCCACACACACCATCCACA CACCACCCTCCACACACACCATGCTCCACACACACCGCCCTCCACACACA CCATCCTCCACACACACCATGCTCCACACACCACCCTCCACACACCACCC TCTACCACCCTCCACACACCACCATCCACACACACCAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp2 HG02630.hp2 others(2): Show HG02280.hp2 HG02615.hp2 HG02630.hp2 HG02809.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0020 a0001c0006t0002	a0001c0001t0001g0119 a0001c0001t0002g0145 a0001c0001t0006g0173 others(2): Show a0001c0001t0001g0119 a0001c0001t0002g0145 a0001c0001t0006g0173 a0001c0001t0020g0007 a0001c0006t0002g0102	5	153	0.0327	187	c.114 others(206): Show c.114+21476_114+21477insGTGGTGTGTGTGGATGGTGGTGTGTG GAGGGTGGTAGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAGCATGGTGTG TGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTGTG TGGAGGGTGGTGTGTGGATGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTG GTGTGTGGAGC	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCZ_chr1_2045411_2190395	2122054	C C	CACGGCGG others(180): Show CACGGCGGTGGTTAGGGTCGTGGTGGGAGTTAGGGTCACGGTGGTAGTTA GGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGCGTCATGGTGGTA GTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCATGGT GGTAGTTATTTAGGGTCACGGCTGTAGTTAGCGTCATG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02698.hp1 NA18956.hp2 others(1): Show HG02293.hp1 HG02698.hp1 NA18956.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0082 others(1): Show a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0082 a0001c0001t0001g0085	4	154	0.0260	187	c.335 others(206): Show c.335-13208_335-13207insACGGCGGTGGTTAGGGTCGTGGTGGG AGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTC ATGGTGGTAGTTAGGGTCATGGTGGTAGTTATTTAGGGTCACGGCTGTAG TTAGCGTCATG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122371	G G	GGTAGTTA others(180): Show GGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGCGTCA TGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGG GTCATGGTGGTAGTTATTTAGGGTCACGGCTGTAGTTAGCGTCATGGTGG TGGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01256.hp1 HG02257.hp2 others(5): Show HG01243.hp1 HG01256.hp1 HG02257.hp2 HG02622.hp2 HG02723.hp1 HG03540.hp2 HG03831.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0001 a0001c0003t0002	a0001c0001t0001g0178 a0001c0003t0001g0062 a0001c0003t0001g0125 others(5): Show a0001c0001t0001g0178 a0001c0003t0001g0062 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0134 a0001c0003t0001g0147 a0001c0003t0001g0250 a0001c0003t0002g0020	8	171	0.0468	187	c.335 others(206): Show c.335-12889_335-12888insAGTTAGGGTCATGGTGGTAGTTAGGA TCATGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCACGGCTATAGTT GGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTATTTAGGGTCACGG CTGTAGTTAGCGTCATGGTGGTGGTTAGGGTCATGGTGGTAGTTAGGGTC ACGGCTGTAGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123710	G G	GTCACGGC others(180): Show GTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTAGGGTCATGGTGG TAGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCACGGTGGTAGTTAGGGT CATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0125 a0001c0003t0001g0125	1	207	0.0048	187	c.335 others(206): Show c.335-11551_335-11550insCACGGCTATAGTTGGGGTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTATAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTATTTA GGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTA GTTAGGGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PXDN_chr2_1626887_1749515	1720030	A A	AGGGAGGG others(180): Show AGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAG AGGGAGGGAGGGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAG AGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGGAGGGATGCAGAGA GAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01981.hp2 HG02148.hp1 others(1): Show HG01928.hp1 HG01981.hp2 HG02148.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0193 a0001c0001t0002g0177 a0001c0001t0005g0175 others(1): Show a0001c0001t0001g0193 a0001c0001t0002g0177 a0001c0001t0005g0175 a0001c0001t0009g0178	4	198	0.0202	187	c.200 others(206): Show c.200+24225_200+24226insCCTCTCTCTCTCTCTGCATCCCTCCC TCCCTCTCTCTCTCTCTGCATCCCTCCCCTCCCTCTCTCTCTGCATCCCT CCCTCCCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCTGCAT CCCTCCCTCCCTCTCTCTCTCTGCATCCCTCCCTCCCTCTCTCTCTCTCT GCATCCCTCCC	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAB11FIP3_chr16_420649_528011	492516	C C	CTCCCCGG others(180): Show CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCA GGGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGCCCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0059 a0001c0006t0059	a0001c0006t0059g0111 a0001c0006t0059g0111	1	203	0.0049	187	c.126 others(206): Show c.1265+3520_1265+3521insCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCG GGAGACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGTCCA GGGCCCTTCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAE1_chr20_57346255_57384202	57350881	G G	GGGGGACG others(180): Show GGGGGACGGGGGACGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGACGGGG GGCGGGGGGGGCGGGGGGGGCGGGGGGACGGGGGCGGGGGGGGCGGGGGG GGCGGGGGGACGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGACGGGGGCG GGGGGGCGGGGGGGCGGGGGGGCGGGGGGGGCGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0025 a0001c0001t0009g0025	1	220	0.0045	187	c.-54 others(196): Show c.-549_-548insGGGGACGGGGGACGGGGGGCGGGGGGCGGGGGGGGC GGGGGGGACGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGACGGGGGCGG GGGGGGCGGGGGGGGCGGGGGGACGGGGGCGGGGGGGGCGGGGGGGGCGG GGGGACGGGGGCGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGGGCGGGGG C	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		373		chr20	TogoVar

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