Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MYOM2_chr8_2040046_2150456	2130125	GCTATACC others(143): Show GCTATACCCAGGGCGTCCCCACCGCGCCTTTAGTGAACACCCCTCACTAC GCTCTACCCAGGGCGCCCACACCCCGCCTTTAGTTAACGCCCGTCAGTAC CGTATACCCAGGGCGCCCACACCCCGCCTTTAGTTAACGCCCGTCAGTAC C	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00673.hp1 others(95): Show HG00408.hp2 HG00438.hp1 HG00673.hp1 HG00735.hp2 HG01243.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01928.hp2 HG01934.hp2 HG01981.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02523.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp2 HG03540.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18940.hp1 NA18941.hp2 NA18949.hp2 NA18951.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18987.hp2 NA18989.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19068.hp2 NA19077.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(33): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0013 a0015 a0016 a0018 a0019 a0020 a0022 a0024 a0026 a0032 a0033 a0036 a0037 a0038 a0041 a0043 a0045 a0051 a0057 a0065 a0073 a0074 a0076 a0078 a0087 a0088 a0090	a0001c0002 a0001c0003 a0001c0009 others(66): Show a0001c0002 a0001c0003 a0001c0009 a0001c0022 a0001c0023 a0001c0065 a0001c0138 a0002c0006 a0002c0015 a0002c0017 a0002c0033 a0002c0041 a0002c0042 a0002c0048 a0002c0096 a0002c0098 a0002c0104 a0002c0107 a0002c0120 a0002c0123 a0002c0129 a0003c0001 a0003c0004 a0003c0069 a0003c0152 a0003c0164 a0004c0007 a0004c0153 a0005c0005 a0005c0142 a0006c0013 a0006c0191 a0006c0194 a0006c0198 a0009c0012 a0009c0165 a0010c0199 a0010c0206 a0011c0176 a0011c0184 a0013c0074 a0013c0080 a0015c0197 a0016c0073 a0018c0018 a0019c0058 a0020c0027 a0022c0043 a0022c0066 a0024c0055 a0026c0174 a0032c0071 a0033c0046 a0036c0036 a0037c0133 a0038c0131 a0041c0210 a0043c0212 a0045c0208 a0051c0190 a0057c0167 a0065c0161 a0073c0112 a0074c0126 a0076c0106 a0078c0115 a0087c0081 a0088c0172 a0090c0187	a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 others(68): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0009t0001 a0001c0022t0001 a0001c0023t0001 a0001c0065t0001 a0001c0138t0001 a0002c0006t0001 a0002c0015t0001 a0002c0017t0001 a0002c0033t0001 a0002c0041t0001 a0002c0042t0001 a0002c0048t0003 a0002c0096t0001 a0002c0098t0001 a0002c0104t0001 a0002c0107t0001 a0002c0120t0001 a0002c0123t0001 a0002c0129t0001 a0003c0001t0001 a0003c0001t0003 a0003c0004t0001 a0003c0069t0001 a0003c0152t0001 a0003c0164t0001 a0004c0007t0001 a0004c0153t0001 a0005c0005t0001 a0005c0142t0001 a0006c0013t0001 a0006c0191t0001 a0006c0194t0001 a0006c0198t0001 a0009c0012t0001 a0009c0165t0003 a0010c0199t0001 a0010c0206t0001 a0011c0176t0001 a0011c0184t0001 a0013c0074t0001 a0013c0080t0001 a0015c0197t0001 a0016c0073t0001 a0018c0018t0003 a0019c0058t0001 a0020c0027t0001 a0022c0043t0001 a0022c0066t0005 a0024c0055t0001 a0026c0174t0001 a0032c0071t0001 a0033c0046t0001 a0036c0036t0001 a0037c0133t0001 a0038c0131t0001 a0041c0210t0001 a0043c0212t0001 a0045c0208t0001 a0051c0190t0001 a0057c0167t0001 a0065c0161t0001 a0073c0112t0001 a0074c0126t0001 a0076c0106t0001 a0078c0115t0001 a0087c0081t0001 a0088c0172t0001 a0090c0187t0001	a0001c0002t0001g0220 a0001c0002t0001g0282 a0001c0002t0001g0303 others(95): Show a0001c0002t0001g0220 a0001c0002t0001g0282 a0001c0002t0001g0303 a0001c0002t0001g0383 a0001c0002t0003g0096 a0001c0002t0003g0308 a0001c0003t0001g0198 a0001c0009t0001g0204 a0001c0022t0001g0083 a0001c0022t0001g0396 a0001c0023t0001g0137 a0001c0023t0001g0385 a0001c0023t0001g0391 a0001c0065t0001g0125 a0001c0138t0001g0311 a0002c0006t0001g0085 a0002c0006t0001g0120 a0002c0015t0001g0142 a0002c0015t0001g0191 a0002c0017t0001g0330 a0002c0033t0001g0212 a0002c0041t0001g0084 a0002c0041t0001g0394 a0002c0042t0001g0315 a0002c0048t0003g0128 a0002c0096t0001g0209 a0002c0098t0001g0208 a0002c0104t0001g0215 a0002c0107t0001g0072 a0002c0120t0001g0007 a0002c0123t0001g0192 a0002c0129t0001g0393 a0003c0001t0001g0225 a0003c0001t0001g0238 a0003c0001t0001g0261 a0003c0001t0001g0266 a0003c0001t0001g0338 a0003c0001t0001g0351 a0003c0001t0003g0273 a0003c0001t0003g0340 a0003c0004t0001g0319 a0003c0004t0001g0323 a0003c0004t0001g0325 a0003c0004t0001g0326 a0003c0004t0001g0327 a0003c0069t0001g0241 a0003c0152t0001g0370 a0003c0164t0001g0101 a0004c0007t0001g0336 a0004c0153t0001g0126 a0005c0005t0001g0297 a0005c0005t0001g0317 a0005c0142t0001g0255 a0006c0013t0001g0152 a0006c0191t0001g0169 a0006c0194t0001g0400 a0006c0198t0001g0163 a0009c0012t0001g0049 a0009c0165t0003g0206 a0010c0199t0001g0094 a0010c0206t0001g0154 a0011c0176t0001g0053 a0011c0184t0001g0055 a0013c0074t0001g0335 a0013c0080t0001g0387 a0015c0197t0001g0051 a0016c0073t0001g0280 a0018c0018t0003g0227 a0018c0018t0003g0256 a0019c0058t0001g0157 a0020c0027t0001g0088 a0020c0027t0001g0090 a0020c0027t0001g0091 a0022c0043t0001g0239 a0022c0043t0001g0382 a0022c0066t0005g0274 a0024c0055t0001g0144 a0024c0055t0001g0170 a0026c0174t0001g0061 a0032c0071t0001g0121 a0033c0046t0001g0197 a0036c0036t0001g0133 a0036c0036t0001g0342 a0037c0133t0001g0123 a0038c0131t0001g0045 a0041c0210t0001g0153 a0043c0212t0001g0008 a0045c0208t0001g0162 a0051c0190t0001g0207 a0057c0167t0001g0399 a0065c0161t0001g0134 a0073c0112t0001g0244 a0074c0126t0001g0018 a0076c0106t0001g0065 a0078c0115t0001g0203 a0087c0081t0001g0316 a0088c0172t0001g0033 a0090c0187t0001g0022	98	403	0.2432	-150	c.380 others(18): Show c.3800+908_3800+1057del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	32/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1_chr20_64159452_64247253	64175077	CCTGCAGC others(143): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCGTCT CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCT T	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03453.hp2 NA18964.hp1 HG03209.hp2 HG03453.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0103 a0001c0001t0003g0015 a0001c0001t0008g0016 a0001c0001t0001g0103 a0001c0001t0003g0015 a0001c0001t0008g0016	3	223	0.0135	-150	c.-99 others(19): Show c.-99+10341_-99+10490del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYZAP_chr15_57586904_57690364	57688253	TATATTAT others(143): Show TATATTATGTGTGTACAATATACACATATATTATGTGTGTACAATATACA CATATATAATATGTGTGTACAATATACACATATATATAATATGTGTGTAC AATATACACATATATATAATATGTGTGTACAATATACACATATAATATAA A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	352	0.0028	-150	c.37 others(11): Show c.3756_*3905del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2890		chr15	TogoVar
NEU4_chr2_241804193_241822413	241806196	CCCCTCAG others(143): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCC T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	319	0.0031	-150	c.-30 others(11): Show c.-3081_-2932del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2996		chr2	TogoVar
NSMF_chr9_137442570_137464334	137450479	TGCCTCTT others(143): Show TGCCTCTTCCCTTTGATCTCCCCCACCACACGCCTCTTCCCTTTGATCTC CCCCACCACACACCTCTTCCCTTTGATCTCCCCCACCACACGCCTCTTCC CCTTGATCTCCCCCACCACACGCCTCTTCCCTTTGATCTCCCCCACCACA C	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0058 a0001c0004t0006g0058	1	414	0.0024	-150	c.123 others(17): Show c.1237-374_1237-225del	NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	12/15			chr9	TogoVar
NXN_chr17_794310_984776	894110	TCCCTGGA others(143): Show TCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAG CATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAG CCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAAC G	T T	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	242	0.0041	-150	c.361 others(19): Show c.361-68182_361-68033del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR2V2_chr5_181142586_181164285	181160698	TTGGGGGT others(143): Show TTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAGGACG AGCATCGTCACTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTGG GGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAGGACGAGCATCGTCA C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 NA18959.hp2 HG01243.hp2 NA18959.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0011 a0001c0001t0002 a0002c0002t0011	a0001c0001t0002g0001 a0002c0002t0011g0027 a0001c0001t0002g0001 a0002c0002t0011g0027	2	424	0.0047	-150	c.48 others(11): Show c.4809_*4958del	OR2V2	ENSG00000182613.3	transcript	ENST00000641492.1	protein_coding		1414		chr5	TogoVar
OR2V2_chr5_181142586_181164285	181160727	ACTGGGGG others(143): Show ACTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAGGAC GAGCATCGTCACTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTG GGGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAGGACGAGCATCGTC G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01243.hp1 HG01515.hp2 others(32): Show HG00408.hp1 HG01243.hp1 HG01515.hp2 HG01884.hp1 HG01952.hp2 HG02040.hp1 HG02109.hp2 HG02258.hp1 HG02451.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03688.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18987.hp2 NA18999.hp2 NA19011.hp1 NA19240.hp1 NA20752.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0008 a0001c0001t0021 a0001c0001t0038 others(6): Show a0001c0001t0008 a0001c0001t0021 a0001c0001t0038 a0003c0003t0009 a0003c0003t0014 a0003c0003t0032 a0003c0003t0074 a0003c0003t0076 a0003c0003t0081	a0001c0001t0008g0007 a0001c0001t0021g0007 a0001c0001t0021g0036 others(13): Show a0001c0001t0008g0007 a0001c0001t0021g0007 a0001c0001t0021g0036 a0001c0001t0038g0072 a0001c0001t0038g0082 a0003c0003t0009g0004 a0003c0003t0009g0010 a0003c0003t0014g0010 a0003c0003t0014g0078 a0003c0003t0014g0079 a0003c0003t0014g0088 a0003c0003t0032g0035 a0003c0003t0032g0085 a0003c0003t0074g0087 a0003c0003t0076g0010 a0003c0003t0081g0010	35	424	0.0826	-150	c.48 others(11): Show c.4838_*4987del	OR2V2	ENSG00000182613.3	transcript	ENST00000641492.1	protein_coding		1443		chr5	TogoVar
PAH_chr12_102831889_102922244	102835622	CATACATA others(143): Show CATACATATATGTGCATACGTACATATGCACATACATATATGTGCATACG TACATATGCATATACATATATGTGCATACGTACATATGCATATACATATA TGTGCATACGTACATATGCATATACATATATGTGCATACGTACATATGCA T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00558.hp2 others(81): Show HG00140.hp1 HG00408.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01928.hp2 HG01952.hp2 HG01993.hp1 HG02040.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp2 HG02698.hp1 HG02738.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG04199.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18970.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18992.hp2 NA18993.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19012.hp2 NA19054.hp1 NA19057.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19076.hp2 NA19077.hp1 NA19086.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 a0001c0002t0015 a0001c0002t0019 a0001c0002t0020 a0001c0002t0021 a0001c0002t0022 a0001c0010t0001	a0001c0001t0001g0026 a0001c0001t0001g0046 a0001c0001t0001g0047 others(79): Show a0001c0001t0001g0026 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0070 a0001c0001t0001g0127 a0001c0001t0001g0189 a0001c0002t0001g0003 a0001c0002t0001g0021 a0001c0002t0001g0027 a0001c0002t0001g0029 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0051 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0175 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0185 a0001c0002t0001g0209 a0001c0002t0003g0231 a0001c0002t0011g0030 a0001c0002t0011g0089 a0001c0002t0015g0007 a0001c0002t0019g0035 a0001c0002t0020g0078 a0001c0002t0021g0083 a0001c0002t0022g0025 a0001c0010t0001g0001	84	312	0.2692	-150	c.34 others(11): Show c.3403_*3552del	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding		1266		chr12	TogoVar
PANX2_chr22_50165731_50185295	50168283	GTGAATAG others(143): Show GTGAATAGGTTATGTGAGGGGTGCCCGGGTTATTTGGGGTGATTGTTTAT CTGGCAGTGACTGGGTTATCTGGGGTGAAAGGTTATGTGAGAGGTGACTG GGTTATTTGGGAGGTGACTGGTTTATCTGGCAGTGACTGGGTTATCTGGG T	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00423.hp2 others(52): Show HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01358.hp2 HG01515.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02080.hp2 HG02145.hp2 HG02148.hp1 HG02683.hp2 HG02738.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03710.hp1 HG03831.hp2 HG04199.hp1 HG04228.hp1 NA18939.hp1 NA18953.hp1 NA18954.hp1 NA18960.hp1 NA18973.hp2 NA18975.hp1 NA18983.hp1 NA18987.hp2 NA18990.hp1 NA18992.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19077.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0014 a0001c0002t0029 a0001c0003t0001 a0001c0003t0002 a0002c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0145 others(21): Show a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0145 a0001c0001t0002g0005 a0001c0001t0003g0089 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0019 a0001c0002t0001g0130 a0001c0002t0004g0003 a0001c0002t0004g0132 a0001c0002t0007g0005 a0001c0002t0008g0091 a0001c0002t0014g0103 a0001c0002t0029g0147 a0001c0003t0001g0003 a0001c0003t0001g0050 a0001c0003t0001g0101 a0001c0003t0001g0111 a0001c0003t0001g0143 a0001c0003t0002g0001 a0001c0003t0002g0016 a0001c0003t0002g0123 a0002c0006t0001g0110	55	440	0.1250	-150	c.-24 others(11): Show c.-2447_-2298del	PANX2	ENSG00000073150.14	transcript	ENST00000395842.3	protein_coding		2447		chr22	TogoVar
PARD3B_chr2_204540475_205625162	204998364	GTGTGTGT others(143): Show GTGTGTGTGTGTATATATGTGTGTGTATATATGTATATATGTGTATATAT ATGTATATATGTGTATATATATGTGTGTGTATATATATGTGTATATTATA TATGTATATATATGTGTATATAATATATGTATATATATGTGTATATATAT A	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0011 a0011	a0011c0024 a0011c0024	a0011c0024t0003 a0011c0024t0003	a0011c0024t0003g0014 a0011c0024t0003g0014	1	54	0.0185	-150	c.394 others(19): Show c.394+33051_394+33200del	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PCNP_chr3_101569180_101599465	101591508	TGAGCGTA others(143): Show TGAGCGTAAAGTAGGAAGTACATATGACGTTGTTGTCCCGCCTAAACACC CAGCACATATATTAATATAGTTAAACATAAATAATTGAAGCAGAAGTTCA TAAAATGACACTGAACCTTTCTATGTGTAATGTATCTTCATGTTTTTCTT C	T T	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0209 a0001c0001t0005g0209	1	424	0.0024	-150	c.411 others(16): Show c.411-1118_411-969del	PCNP	ENSG00000081154.12	transcript	ENST00000265260.8	protein_coding	4/4			chr3	TogoVar
PDCD1_chr2_241844884_241863894	241848305	TGCTGGCG others(143): Show TGCTGGCGCGCTGCGCTGTCAATGGATGAATGAAAGCCTTGAGTTCTGGA TGCTGGCGCGCTGCGCTGTGAATGGGTGTTTGAGAGCCTTGAGTTCTGGA TGCTGGCGCGCCGCGCTGTCAGTGGATGAATGAGAGACGTGAGTTCTGGA C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0123 a0001c0001t0016g0123	1	407	0.0025	-150	c.26 others(11): Show c.2603_*2752del	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding		1578		chr2	TogoVar
PDE7B_chr6_135846701_136200574	136105930	CAGTGATT others(143): Show CAGTGATTTCCAAAAGGTGAGCGTGAAAGTGCTGGAAGGAGCCCATGAGA TTACAGCAACAGGTCAACAAATCCACAAGCCCAGCCAGCTTTGTAGATAA AATCTATACAGTTCCTCTTTGGTAATACTGAGAAGAAAATACTAATGGAG A	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 homoSapiens_chm13v2.hp1 NA18906.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0028 a0001c0001t0001 a0001c0006t0028	a0001c0001t0001g0124 a0001c0006t0028g0032 a0001c0001t0001g0124 a0001c0006t0028g0032	2	142	0.0141	-150	c.83- others(15): Show c.83-2689_83-2540del	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PFKFB3_chr10_6197932_6240532	6210533	TGTGTTTT others(143): Show TGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT AGTGTTTTTAATAGACGGGGTTTCGCCATGTTAGCCAGGATAGTCTTGAT A	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03195.hp2 HG02280.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0063 a0001c0002t0039 a0001c0001t0063 a0001c0002t0039	a0001c0001t0063g0049 a0001c0002t0039g0354 a0001c0001t0063g0049 a0001c0002t0039g0354	2	432	0.0046	-150	c.77- others(15): Show c.77-2863_77-2714del	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKFB3_chr10_6197932_6240532	6210760	ATGTTAGC others(143): Show ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC ATGTTAGCCAGGATAGTCTTGATAGTGTTTTTAATAGACGGGGTTTCGCC G	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03927.hp1 HG04199.hp2 others(3): Show HG02615.hp1 HG03927.hp1 HG04199.hp2 NA18941.hp2 NA18980.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0024 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0024 a0001c0001t0076 a0001c0003t0002 a0001c0003t0008	a0001c0001t0001g0228 a0001c0001t0006g0378 a0001c0001t0024g0290 others(3): Show a0001c0001t0001g0228 a0001c0001t0006g0378 a0001c0001t0024g0290 a0001c0001t0076g0213 a0001c0003t0002g0214 a0001c0003t0008g0334	6	432	0.0139	-150	c.77- others(15): Show c.77-2840_77-2691del	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHKA1_chrX_72573814_72719306	72707452	TTAATGTA others(143): Show TTAATGTACTGTAACTACTTGCTTATATATCTGTCTCCCCCATCAGACAA TGAACTCCCTGAGAAAAAGGGGCAGAGGCCAGGTTCAGAAAAAGACCTTC AAGTCAATGGACGAAGGAAGTTGAATTAAAAAACAAACTCATGTCTGCAA G	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03195.hp1 HG03486.hp1 HG02280.hp2 HG03195.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229	3	237	0.0127	-150	c.238 others(17): Show c.238-2357_238-2208del	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	2/31			chrX	TogoVar
PIK3C2B_chr1_204417633_204499805	204471058	CATGGCTT others(143): Show CATGGCTTCACTGGTATTCTCACATGATGGCTTCATTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT G	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00735.hp1 others(14): Show HG00280.hp1 HG00423.hp1 HG00735.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG02040.hp1 HG02074.hp1 HG02155.hp2 HG02572.hp2 HG02698.hp1 HG04115.hp2 HG04228.hp2 NA18942.hp2 NA18973.hp2 NA18974.hp1 NA18995.hp1	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0013	a0001c0001 a0001c0007 a0001c0009 others(4): Show a0001c0001 a0001c0007 a0001c0009 a0001c0024 a0002c0011 a0010c0031 a0013c0023	a0001c0001t0001 a0001c0007t0002 a0001c0007t0004 others(5): Show a0001c0001t0001 a0001c0007t0002 a0001c0007t0004 a0001c0009t0001 a0001c0024t0003 a0002c0011t0001 a0010c0031t0001 a0013c0023t0001	a0001c0001t0001g0133 a0001c0001t0001g0174 a0001c0001t0001g0192 others(13): Show a0001c0001t0001g0133 a0001c0001t0001g0174 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0206 a0001c0001t0001g0224 a0001c0007t0002g0082 a0001c0007t0002g0194 a0001c0007t0002g0270 a0001c0007t0004g0158 a0001c0009t0001g0132 a0001c0024t0003g0034 a0002c0011t0001g0004 a0002c0011t0001g0054 a0010c0031t0001g0033 a0013c0023t0001g0059	17	302	0.0563	-150	c.-84 others(17): Show c.-84-1322_-84-1173del	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PIK3C2B_chr1_204417633_204499805	204471068	CTGGTATT others(143): Show CTGGTATTCTCACATGATGGCTTCATTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA C	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0067 a0001c0006t0001g0067	1	302	0.0033	-150	c.-84 others(17): Show c.-84-1332_-84-1183del	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PIK3C2B_chr1_204417633_204499805	204471093	TTGGTATT others(143): Show TTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA CTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACATGATGGCTTCA C	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0101 a0001c0005t0003g0101	1	302	0.0033	-150	c.-84 others(17): Show c.-84-1357_-84-1208del	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PIK3C2G_chr12_18256518_18653416	18369567	ATCGTATA others(143): Show ATCGTATAATTGACATATGATCATATAACGATCGTATAATTGACATATGA TCATATAACGATCGTATAATTGACATATGATCATATAACGGTCGTATAAT TGACATATGATCATATAACGGTCGTATAATTGACATATGATCATATAACG G	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG00639.hp2 others(27): Show HG00558.hp2 HG00621.hp1 HG00639.hp2 HG01261.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG02080.hp1 HG02300.hp1 HG03209.hp1 HG03239.hp1 HG03491.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp2 NA18948.hp1 NA18954.hp1 NA18955.hp2 NA18970.hp2 NA18984.hp2 NA18990.hp2 NA19006.hp2 NA19011.hp2 NA19060.hp2 NA19063.hp1 NA19084.hp1 NA20752.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0010	a0001c0001 a0002c0003 a0004c0005 others(2): Show a0001c0001 a0002c0003 a0004c0005 a0007c0007 a0010c0013	a0001c0001t0001 a0002c0003t0001 a0002c0003t0004 others(7): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0004 a0002c0003t0006 a0004c0005t0001 a0004c0005t0002 a0004c0005t0004 a0007c0007t0001 a0007c0007t0002 a0010c0013t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 others(27): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0060 a0002c0003t0001g0020 a0002c0003t0001g0022 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0038 a0002c0003t0001g0057 a0002c0003t0001g0151 a0002c0003t0001g0154 a0002c0003t0001g0156 a0002c0003t0001g0163 a0002c0003t0004g0168 a0002c0003t0006g0035 a0004c0005t0001g0095 a0004c0005t0002g0050 a0004c0005t0002g0104 a0004c0005t0004g0121 a0007c0007t0001g0002 a0007c0007t0001g0006 a0007c0007t0001g0007 a0007c0007t0002g0004 a0007c0007t0002g0005 a0010c0013t0001g0008	30	176	0.1705	-150	c.174 others(19): Show c.1749-1583_1749-1434del	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIP5K1C_chr19_3625183_3705468	3649363	GTGCCCAC others(143): Show GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC GTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACC A	G G	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0158 a0001c0002t0018g0158	1	332	0.0030	-150	c.112 others(17): Show c.1128-805_1128-656del	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PLEKHN1_chr1_961482_980865	964624	GGGGGCGC others(143): Show GGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGT CCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGA TGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGG A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG02647.hp1 NA18963.hp1 HG01433.hp1 HG02647.hp1 NA18963.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0006 a0003c0005 a0005c0014 a0002c0006 a0003c0005 a0005c0014	a0002c0006t0006 a0003c0005t0035 a0005c0014t0005 a0002c0006t0006 a0003c0005t0035 a0005c0014t0005	a0002c0006t0006g0005 a0003c0005t0035g0060 a0005c0014t0005g0061 a0002c0006t0006g0005 a0003c0005t0035g0060 a0005c0014t0005g0061	3	422	0.0071	-150	c.-19 others(11): Show c.-1907_-1758del	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1857		chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151874339	TATGTATA others(143): Show TATGTATATGTATATGATGTATATGTATATGTATATGATGTATATGTATA TGATGTATATGTATATGTATATGATGTATATGTATATGTATATGATGTAT ATGTATATGTATATGATGTATATGTATATGTATATGATGTATATGTATAT G	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	252	0.0040	-150	c.114 others(17): Show c.114+2018_114+2167del	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCA_chr17_66297613_66815743	66798407	ATGGTGAT others(143): Show ATGGTGATGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGACGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGG TGACGGTGGTGACGGTGGTGGTGATGGTGGTGACGGTGGTGGTGGTGATG G	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0150 a0001c0001t0016g0150	1	178	0.0056	-150	c.185 others(19): Show c.1855-5460_1855-5311del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKD1_chr14_29571479_29932847	29826373	TATATATG others(143): Show TATATATGATGGAATATATATATACATATATATGATGGAATATATATATA CATATATGATGGAATATATATATACATATATATGATGGAATATATATACA TATATATGATGGAATATATGTATACATATATATGATGGAATATATGTATA C	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0002 a0001c0003t0006g0002	1	156	0.0064	-150	c.264 others(21): Show c.264+100726_265-100700del	PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/17			chr14	TogoVar
PUM1_chr1_30926506_31070717	30972317	GGGAGGGG others(143): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGAGAAGAGAAGAGAAG A	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0114 a0001c0001t0005g0114	1	334	0.0030	-150	c.150 others(19): Show c.1506+2184_1506+2333del	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PXDN_chr2_1626887_1749515	1704218	AGGGAGGG others(143): Show AGGGAGGGCAACTCCAGGTGAAGGGGGGCAACTCCAGGTGAAGGGGGGGA CAGCTCCAGGTGAAGCGGGGGACAGCTCCAGGTGAAGGAAGGACAACTCC AGGTGAAGCGGGGGACAACTCCAGGTGAAAGAGGGACAACTCCAGGTGAA G	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp1 HG02896.hp2 others(3): Show HG01891.hp1 HG02615.hp1 HG02896.hp2 HG02970.hp1 HG03486.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0012 others(1): Show a0001c0001 a0001c0006 a0001c0012 a0002c0009	a0001c0001t0009 a0001c0001t0010 a0001c0006t0004 others(2): Show a0001c0001t0009 a0001c0001t0010 a0001c0006t0004 a0001c0012t0017 a0002c0009t0011	a0001c0001t0009g0039 a0001c0001t0010g0165 a0001c0001t0010g0166 others(3): Show a0001c0001t0009g0039 a0001c0001t0010g0165 a0001c0001t0010g0166 a0001c0006t0004g0286 a0001c0012t0017g0167 a0002c0009t0011g0081	6	322	0.0186	-150	c.201 others(19): Show c.201-11234_201-11085del	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
RAB3IP_chr12_69733860_69828199	69807188	ATCCCAGA others(143): Show ATCCCAGACAGTGGGCGGCCAGGCAGAGGCTCTCCTCACCTCTCAGACGG GGCAGCCGTGCAGAGGCGCTCCTCACCTCCCAGACGGGGCAGCCGGGCAG AGGCGCTCCTCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCTTCAC C	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0146 a0001c0001t0146	a0001c0001t0146g0273 a0001c0001t0146g0273	1	402	0.0025	-150	c.113 others(19): Show c.1130+5478_1131-5430del	RAB3IP	ENSG00000127328.22	transcript	ENST00000247833.12	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RADIL_chr7_4792055_4888716	4802878	TCTGGCTG others(143): Show TCTGGCTGGGGGGCCCCCTCCCCGGGCACCTCGGGGAATGCTGGCTGGGT CCCCTCCCCGGGCACCTCGGGGCACGCTGGCTGGGGGGCCCCCTCCCCGG GTACCTCGGGGCACTCTGGCTGGGCCCCCTCCCCGGGCACCTCAGGGCAC G	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0032 a0032	a0032c0040 a0032c0040	a0032c0040t0008 a0032c0040t0008	a0032c0040t0008g0106 a0032c0040t0008g0106	1	292	0.0034	-150	c.249 others(17): Show c.2499+518_2499+667del	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	11/14			chr7	TogoVar
RADIL_chr7_4792055_4888716	4802916	TGCTGGCT others(143): Show TGCTGGCTGGGTCCCCTCCCCGGGCACCTCGGGGCACGCTGGCTGGGGGG CCCCCTCCCCGGGTACCTCGGGGCACTCTGGCTGGGCCCCCTCCCCGGGC ACCTCAGGGCACGCTGGCTGGGGGGCCCCCTCCCCGGGTACCTCGGGGCA C	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0041 a0041	a0041c0031 a0041c0031	a0041c0031t0002 a0041c0031t0002	a0041c0031t0002g0137 a0041c0031t0002g0137	1	292	0.0034	-150	c.249 others(17): Show c.2499+480_2499+629del	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	11/14			chr7	TogoVar
RADIL_chr7_4792055_4888716	4803142	TCTGGCTG others(143): Show TCTGGCTGGGTCCCCTCCCCGGGCACCTCGGGGCACGCTGGCTGGGGGGC CCCCTCCCCGGGTACCTCGGGGCACACTGGCTGGGCCCCCTCCCCGGGCA CCTCAGGGCACGCTGGCTGGGGGGCCCCCTCCCCGGGCACCTCGGGGCAC G	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	292	0.0034	-150	c.249 others(17): Show c.2499+254_2499+403del	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	11/14			chr7	TogoVar
RADIL_chr7_4792055_4888716	4803262	GGGGCCCC others(143): Show GGGGCCCCCTCCCCGGGCACCTCGGGGCACGCTGGCTGGGTGGCCCCCTC CCCGGGCACCTCAGGGCACGCTGGCTGGGTCCCCTCCCCGGGCACCTCGG GGCACGCTGGCTGGGTGGCCCCCTCCCCGGGCACCTCGGGGCACACTGGC T	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG01361.hp1 others(2): Show HG01074.hp2 HG01081.hp2 HG01361.hp1 HG03491.hp1 NA18952.hp1	a0002 a0014 a0028 a0002 a0014 a0028	a0002c0008 a0014c0019 a0028c0055 a0002c0008 a0014c0019 a0028c0055	a0002c0008t0002 a0014c0019t0019 a0014c0019t0026 others(1): Show a0002c0008t0002 a0014c0019t0019 a0014c0019t0026 a0028c0055t0026	a0002c0008t0002g0026 a0014c0019t0019g0050 a0014c0019t0019g0052 others(2): Show a0002c0008t0002g0026 a0014c0019t0019g0050 a0014c0019t0019g0052 a0014c0019t0026g0164 a0028c0055t0026g0190	5	292	0.0171	-150	c.249 others(17): Show c.2499+134_2499+283del	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	11/14			chr7	TogoVar
RBFOX1_chr16_6014024_7718340	7186219	TATATAAA others(143): Show TATATAAACATAAACATATTTATATAAACATAAACATATTTATATAAACA TAAACATAAACATATTTATATAAATATAAACATAAACATATTTATATAAA TATAAACATAAACATATTTATATAAATATAAACATAAACATATTTATATA A	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG00609.hp2 others(12): Show HG00280.hp2 HG00609.hp1 HG00609.hp2 HG01192.hp1 HG02559.hp1 HG02559.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03579.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0042 a0001c0002t0028	a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0003g0006 others(12): Show a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0003g0006 a0001c0001t0003g0041 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0004g0040 a0001c0001t0006g0038 a0001c0001t0010g0037 a0001c0001t0017g0014 a0001c0001t0019g0055 a0001c0001t0020g0002 a0001c0001t0025g0048 a0001c0001t0042g0022 a0001c0002t0028g0031	15	68	0.2206	-150	c.27+ others(19): Show c.27+134149_27+134298del	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79512915	GCACATGC others(143): Show GCACATGCAGATACATGTTACCATCGGGTACAGCCCCATGGCCAGGGGAC ACCCACCCAGATACATGTTACCATCGGGTACAGCCCCATGGCCAGGGGAC ACCCACCCGGATACGTGTTACCATCGGGTACGGCCCCATGGCCAGGGGAC A	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02976.hp1 HG03453.hp1 HG02258.hp1 HG02976.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013	a0001c0001t0005g0142 a0001c0001t0006g0125 a0001c0001t0013g0070 a0001c0001t0005g0142 a0001c0001t0006g0125 a0001c0001t0013g0070	3	154	0.0195	-150	c.-31 others(21): Show c.-319-30467_-319-30318del	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RNF213_chr17_80255852_80403794	80314452	AGGTGATG others(143): Show AGGTGATGGTGGTGATGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTG GTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGT AATGGAGGTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTAATGGAGGTGA T	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0095 a0095	a0095c0040 a0095c0040	a0095c0040t0003 a0095c0040t0003	a0095c0040t0003g0196 a0095c0040t0003g0196	1	292	0.0034	-150	c.281 others(19): Show c.2811+1290_2811+1439del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314614	TGGTGGTG others(143): Show TGGTGGTGGTGGAGGTACTGGAGGTGATGGCGGTCGTGGAGGTGATGGTG GAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGAT GGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACTGG A	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0032 a0032	a0032c0022 a0032c0022	a0032c0022t0006 a0032c0022t0006	a0032c0022t0006g0169 a0032c0022t0006g0169	1	292	0.0034	-150	c.281 others(19): Show c.2811+1452_2811+1601del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF223_chr1_1065967_1079306	1076525	TGGCTGAG others(143): Show TGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGG A	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	324	0.0031	-150	c.-26 others(11): Show c.-2669_-2520del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2220		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077541	CGAGAGGC others(143): Show CGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGG GACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTG AGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTG G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG01074.hp1 others(8): Show HG00099.hp1 HG00099.hp2 HG01074.hp1 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01361.hp2 HG01934.hp1 HG02486.hp1 HG02922.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0011g0017 a0001c0001t0001g0001 a0001c0001t0011g0017	11	324	0.0340	-150	c.-36 others(11): Show c.-3685_-3536del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3236		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077707	TGGGGACT others(143): Show TGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGCTGAGGCTA C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0024 a0004c0005t0024	a0004c0005t0024g0058 a0004c0005t0024g0058	1	324	0.0031	-150	c.-38 others(11): Show c.-3851_-3702del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		3402		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078531	GGGGAGGC others(143): Show GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGC C	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	324	0.0031	-150	c.-46 others(11): Show c.-4675_-4526del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4226		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078611	GACTCCGT others(143): Show GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG C	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	324	0.0031	-150	c.-47 others(11): Show c.-4755_-4606del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4306		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078711	GGGGAGGC others(143): Show GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG CACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGC C	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	324	0.0031	-150	c.-48 others(11): Show c.-4855_-4706del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4406		chr1	TogoVar
RNF223_chr1_1065967_1079306	1078805	AGGCTGAG others(143): Show AGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGG T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0012 a0001c0001t0007g0012	1	324	0.0031	-150	c.-49 others(11): Show c.-4949_-4800del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4500		chr1	TogoVar
RPH3AL_chr17_207389_357807	233856	TGAGCAGG others(143): Show TGAGCAGGGAGCGGCTACTTCCCCTGACCAACTTTCCCCCAAGCGGGGAG CGGCTACTTACCCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTTACCC TGACCAACTTCCCCGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCC C	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	133	0.0075	-150	c.613 others(19): Show c.613+13105_613+13254del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	234159	AGGGAGCG others(143): Show AGGGAGCGGCTACTTACCCTGACCAACTTCCCTGAGCAGGGAGCGGCTAC TTACCCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTTACCCTGACCAA CTTCCCTGAGCAGGGAGCGGCTACTTACCCTGACCAACTTTCCCCCAAGC G	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0035 a0002c0005t0005g0035	1	133	0.0075	-150	c.613 others(19): Show c.613+12802_613+12951del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPS6KA6_chrX_84053350_84193199	84191715	TATATATA others(143): Show TATATATATATCCATATATATATATCCATATATATATCCATATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATCCATATATATATATC C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG02155.hp2 HG03492.hp1 HG01981.hp2 HG02155.hp2 HG03492.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0001c0001t0077 a0004c0005t0017 a0001c0001t0002 a0001c0001t0077 a0004c0005t0017	a0001c0001t0002g0010 a0001c0001t0077g0181 a0004c0005t0017g0186 a0001c0001t0002g0010 a0001c0001t0077g0181 a0004c0005t0017g0186	3	272	0.0110	-150	c.-39 others(11): Show c.-3966_-3817del	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3517		chrX	TogoVar
RPS6KA6_chrX_84053350_84193199	84191729	TATATATA others(143): Show TATATATATATCCATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATCCATATATATATATC C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG03710.hp1 HG02074.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0026 a0001c0001t0017 a0001c0001t0026	a0001c0001t0017g0228 a0001c0001t0026g0187 a0001c0001t0017g0228 a0001c0001t0026g0187	2	272	0.0074	-150	c.-39 others(11): Show c.-3980_-3831del	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3531		chrX	TogoVar
RTN4RL1_chr17_1929677_2030334	2013559	TGCTCCCT others(143): Show TGCTCCCTCACCCTGGAACATAAATACCCCAGCTCCCTCACCCTGGAACA TAAATACCCCAGCTCCCTCACCCTGGAACATAAATACCCCAGCTCTCTCA CCCTGGAACATAAATACCCCAGCTGTCTCACCCTGGAACATAAATACGCC A	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02622.hp1 others(1): Show HG02257.hp1 HG02451.hp2 HG02622.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0022 a0001c0001t0024 a0001c0002t0017 others(1): Show a0001c0001t0022 a0001c0001t0024 a0001c0002t0017 a0001c0006t0054	a0001c0001t0022g0228 a0001c0001t0024g0056 a0001c0002t0017g0376 others(1): Show a0001c0001t0022g0228 a0001c0001t0024g0056 a0001c0002t0017g0376 a0001c0006t0054g0046	4	384	0.0104	-150	c.13+ others(17): Show c.13+11144_13+11293del	RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding	1/1			chr17	TogoVar
SARDH_chr9_133658560_133743352	133668373	TTCTCCCT others(143): Show TTCTCCCTCAGCCTCCCTCTCCCTCTCCCTTCACCCTCCCTCTCCCTCTC CCTTCACCCTCCCTCTCCCTTACCCTCCCTCTCCCTCGCCCTCCCTCTCC CCTCGCCCTCCCTCTCCCCTCACCCTCACCCTCCCTCTCCCTCACCCTCC C	T T	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	262	0.0038	-150	c.249 others(19): Show c.2496-1653_2496-1504del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar

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