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
FBXL14_chr12_1560993_1599581	1599343	ACCTGACC others(127): Show ACCTGACCAACATGGAGAAACCTCGTCTCTACTGAAAATACAAAATTAGG CGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGC AGGCAGATCCCCTGAGGTCAGGAGTTTGAGGCCAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01257.hp2 HG01496.hp2 others(48): Show HG01081.hp2 HG01257.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG02040.hp1 HG02145.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA18945.hp1 NA18953.hp2 NA18966.hp1 NA18968.hp2 NA18970.hp2 NA18995.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19043.hp1 NA19064.hp1 NA19068.hp2 NA19080.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(18): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0012 a0001c0002t0016 a0001c0002t0018 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0034 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0029 a0001c0006t0014 a0001c0007t0005	a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0005g0350 others(47): Show a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0005g0350 a0001c0001t0005g0351 a0001c0001t0005g0355 a0001c0001t0005g0356 a0001c0001t0005g0357 a0001c0001t0005g0358 a0001c0001t0005g0359 a0001c0001t0005g0374 a0001c0001t0013g0354 a0001c0001t0013g0369 a0001c0001t0013g0370 a0001c0001t0013g0375 a0001c0002t0001g0273 a0001c0002t0001g0276 a0001c0002t0001g0278 a0001c0002t0002g0347 a0001c0002t0004g0277 a0001c0002t0005g0376 a0001c0002t0005g0380 a0001c0002t0005g0381 a0001c0002t0005g0382 a0001c0002t0005g0383 a0001c0002t0005g0384 a0001c0002t0006g0037 a0001c0002t0006g0038 a0001c0002t0006g0040 a0001c0002t0006g0041 a0001c0002t0006g0042 a0001c0002t0006g0046 a0001c0002t0012g0002 a0001c0002t0012g0036 a0001c0002t0012g0039 a0001c0002t0012g0043 a0001c0002t0012g0044 a0001c0002t0016g0274 a0001c0002t0016g0275 a0001c0002t0018g0378 a0001c0002t0018g0379 a0001c0002t0024g0025 a0001c0002t0025g0026 a0001c0002t0026g0045 a0001c0002t0034g0377 a0001c0003t0001g0066 a0001c0003t0003g0062 a0001c0003t0004g0065 a0001c0003t0029g0064 a0001c0006t0014g0386 a0001c0007t0005g0385	51	418	0.1220	-134	c.-54 others(11): Show c.-5411_-5278del	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding		4763		chr12	TogoVar
FIGN_chr2_163597611_163741008	163660724	TGTATACA others(127): Show TGTATACACATATACATATATATGTATACACATATACATATATATGTATA CACATATACATATATATGTATATAGATATACATATATATACATATACATA TATATGTATACATATATACATATATATATGTATAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0099 a0001c0001t0006g0099	1	266	0.0038	-134	c.26- others(17): Show c.26-49052_26-48919del	FIGN	ENSG00000182263.14	transcript	ENST00000333129.4	protein_coding	2/2			chr2	TogoVar
GTPBP8_chr3_112985984_113006969	112986025	CACAAAAA others(127): Show CACAAAAAAACTTTGTAAAATTAGCCAAGGGTGGTTGAGTGCCTGTCGTC TCAGCTACTTAGGAGGCTGAGGCAGGAAGATCACTTGAGCCCAGGAGGTT GAGACTACAGTGAGCCATGATTGTGCCCATTCCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02451.hp2 HG03471.hp1 others(3): Show HG00741.hp2 HG02451.hp2 HG03471.hp1 HG03669.hp1 NA18993.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029	6	452	0.0133	-134	c.-49 others(11): Show c.-4974_-4841del	GTPBP8	ENSG00000163607.18	transcript	ENST00000383678.8	protein_coding		4958		chr3	TogoVar
HSD3B1_chr1_119502210_119520054	119517735	GTGGCCTG others(127): Show GTGGCCTGGATCTCAGGGGAACAGCTGGCAATTGAAATCCATTGGAATGT GCTTTGGGTTAGCAGAGATGGCCTGGATCTCAGGGGAACAGCTGGCAATT GAAATCTATTGGAATGTGCTTTGGGTTAGCAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02886.hp1 HG02895.hp1 others(4): Show HG02451.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG03098.hp2 HG03540.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0021 a0001c0002t0001g0047 others(1): Show a0001c0002t0001g0006 a0001c0002t0001g0021 a0001c0002t0001g0047 a0001c0002t0001g0076	7	410	0.0171	-134	c.30 others(11): Show c.3091_*3224del	HSD3B1	ENSG00000203857.10	transcript	ENST00000369413.8	protein_coding		2682		chr1	TogoVar
IL33_chr9_6210807_6262983	6218787	CATATATA others(127): Show CATATATATATATGTTCTCCATATATATATATGTTCTCCATATATATATG TTCTCCATATATATATATGTTCTCCATATATATATATGTTCTCCATATAT ATATATGTTCTCCATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	362	0.0028	-134	c.-12 others(17): Show c.-12+2948_-12+3081del	IL33	ENSG00000137033.12	transcript	ENST00000682010.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
IL3RA_chrX_1331785_1387689	1366838	GCGTGAGC others(127): Show GCGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCGGGGTG CGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGCCG GGTGCGCGGGGTGCGCGGGGTGCGCGGGGTGCGCC	G G	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0007 a0007c0010t0001g0007	1	115	0.0087	-134	c.874 others(17): Show c.874+1587_874+1720del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11			chrX	TogoVar
INPP4B_chr4_142018160_142851301	142245842	ATGTGTAT others(127): Show ATGTGTATGTATACATATATGTGTATGTATACATATATATGTGTATGTAT ACATATATGTGTATGTATACATATATATGTGTATGTATACATATATGTGT ATGTATACATATATATGTGTATGTATACACACATG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02055.hp1 others(20): Show HG01070.hp2 HG01071.hp2 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0002t0004 a0001c0002t0010 a0001c0002t0022 a0001c0005t0001 a0001c0005t0007 a0001c0006t0006	a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0002g0031 others(20): Show a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0002g0031 a0001c0001t0002g0069 a0001c0001t0003g0073 a0001c0001t0004g0043 a0001c0001t0004g0053 a0001c0001t0005g0084 a0001c0001t0008g0056 a0001c0001t0008g0090 a0001c0001t0015g0025 a0001c0001t0016g0054 a0001c0001t0018g0008 a0001c0001t0019g0064 a0001c0001t0024g0030 a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0052 a0001c0002t0010g0014 a0001c0002t0022g0089 a0001c0005t0001g0026 a0001c0005t0007g0087 a0001c0006t0006g0051	23	90	0.2556	-134	c.689 others(17): Show c.689-7965_689-7832del	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	11/25			chr4	TogoVar
IPO11_chr5_62407763_62633582	62598379	GCTTGCTT others(127): Show GCTTGCTTGCTTGCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03130.hp1 NA18906.hp1 HG02572.hp2 HG03130.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0004 a0001c0004t0001g0005 a0001c0004t0001g0006 a0001c0004t0001g0004 a0001c0004t0001g0005 a0001c0004t0001g0006	3	330	0.0091	-134	c.267 others(19): Show c.2679-3381_2679-3248del	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62598410	TTCTTTCT others(127): Show TTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTTCTTTCTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0011 a0001c0012t0011	a0001c0012t0011g0011 a0001c0012t0011g0011	1	330	0.0030	-134	c.267 others(19): Show c.2679-3352_2679-3219del	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGB2_chr21_44880953_44925899	44924578	AGACCACA others(127): Show AGACCACAAGGGAAATAACCACATATTCTAAAGCACAAAGACCATAAGGA GGCCAAATTCACGGACACAATTGAATGAAATTAGATGCTGTCCAAAGGAT GGCATGAAAGAAAAAAAACAGCACTCCTGAAAAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0210 a0001c0005t0002g0210	1	444	0.0023	-134	c.-38 others(11): Show c.-3895_-3762del	ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding		3680		chr21	TogoVar
JAK1_chr1_64828229_64971549	64957576	TGAGGCAG others(127): Show TGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGT GGCGGGAGCCTGTAATCCCAGCACTTTGGGAGGCC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03209.hp1 HG02647.hp2 HG03209.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0265 a0001c0007t0001g0323 a0001c0007t0001g0265 a0001c0007t0001g0323	2	326	0.0061	-134	c.-78 others(17): Show c.-78+8623_-78+8756del	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64957672	TGGTGGCG others(127): Show TGGTGGCGGGAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGG ATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCC GTCTCTACTAAAAATACAAAAAATTAGCCGGGCGC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	326	0.0031	-134	c.-78 others(17): Show c.-78+8527_-78+8660del	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK3_chr19_17819782_17852982	17828456	TGTTGCCC others(127): Show TGTTGCCCAGGCTGGTCTTGAACTCCTGGGTTCCAGTGATCCTCCTGCCT CAGCCTCCCTAGTAGCTGAAACCACAGGTGCATGTCACCACACCGGCTAT TGCTTGTATTGTTTGTAGAGACAAGGTCTCACTAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp2 HG02630.hp1 others(15): Show HG02451.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03195.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG04184.hp2 NA19002.hp2 NA20752.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0011 a0001c0001 a0003c0003 a0005c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0019 a0001c0001t0021 a0001c0001t0026 a0001c0001t0028 a0001c0001t0037 a0001c0001t0065 a0001c0001t0083 a0003c0003t0010 a0003c0003t0035 a0005c0011t0027	a0001c0001t0001g0132 a0001c0001t0003g0211 a0001c0001t0004g0332 others(14): Show a0001c0001t0001g0132 a0001c0001t0003g0211 a0001c0001t0004g0332 a0001c0001t0005g0333 a0001c0001t0010g0047 a0001c0001t0019g0330 a0001c0001t0021g0258 a0001c0001t0026g0030 a0001c0001t0028g0050 a0001c0001t0028g0224 a0001c0001t0037g0056 a0001c0001t0065g0355 a0001c0001t0083g0331 a0003c0003t0010g0076 a0003c0003t0035g0073 a0003c0003t0035g0074 a0005c0011t0027g0310	18	414	0.0435	-134	c.320 others(19): Show c.3207+1518_3208-1547del	JAK3	ENSG00000105639.21	transcript	ENST00000458235.7	protein_coding	23/23			chr19	TogoVar
JAKMIP1_chr4_6021199_6205549	6037529	ACACCGAG others(127): Show ACACCGAGGCAGAGGCTAACCGGTATCCCTCCATCACCGAGGCAGAGGAT AACCCAGTAGCCCTCCATCACCGAGGCAGAGGCTAACCGGTATCCCTCCA TCACCGAGGCAGAGGTTAACCCAGTAGCCCTCCAT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	233	0.0043	-134	c.217 others(19): Show c.2176-1556_2176-1423del	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	18/20			chr4	TogoVar
JAKMIP3_chr10_132060946_132189858	132159973	GGTGGGGG others(127): Show GGTGGGGGTCTACTTCTATGTCTTACTGGGGGGGGCCTCTCCCTGTGTGA TGCTGGGGAGCCTCTTCCTGTGTGATGCAGGCGGTGGCCTCTTCCTGTGT GATGCTGGGGGGGTCTCTTCCTGTGTGATGCAGGC	G G	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0051 a0002c0004t0004g0051	1	158	0.0063	-134	c.222 others(19): Show c.2221-3234_2221-3101del	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNRG_chr13_50010444_50025922	50022693	CGGAAGGA others(127): Show CGGAAGGATCCTTGAGCCCAGGAGTTCGAGATCAGCCTGAGCAACAGTGA GACCCCCATCTGTCTATGATTTAAAAACAACATCAACAACAAAAAACCCC AAAAATCACAATTACCGGCTTTGCTGTAGAACTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00738.hp2 HG01069.hp2 others(52): Show HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01496.hp2 HG01993.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02896.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03490.hp2 HG03579.hp2 HG03831.hp1 HG04115.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18959.hp2 NA18984.hp2 NA18995.hp2 NA18999.hp2 NA19030.hp1 NA19043.hp2 NA19055.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(5): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0002g0008	55	448	0.1228	-134	c.22 others(11): Show c.2240_*2373del	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		1772		chr13	TogoVar
KCTD3_chr1_215562304_215626807	215615360	GCTGTAGT others(127): Show GCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCA GGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAA AATACCAAAAATTAGCCAGGCGTGGTGGCGGGTGC	G G	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0114 a0001c0004t0002g0114	1	314	0.0032	-134	c.156 others(19): Show c.1562+3453_1563-3379del	KCTD3	ENSG00000136636.13	transcript	ENST00000259154.9	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIAA0513_chr16_85022795_85099218	85084682	CCCTCCCA others(127): Show CCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCTAA TTTTTGTATTTTTAGTAGAGACAGAGTTGCCATGTTGGCCAGGCTGGTCT TGAACTCCTGAACTCAGGTAATCTGACCGCCTCGG	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01993.hp1 HG02293.hp2 HG01261.hp2 HG01993.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0064 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0064	3	390	0.0077	-134	c.101 others(19): Show c.1011-1942_1011-1809del	KIAA0513	ENSG00000135709.14	transcript	ENST00000683363.1	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
KIF26B_chr1_245149985_245714432	245695746	TGTTTTTA others(127): Show TGTTTTTACCTTCTCTACTCCCAGCTCACACGGTGCCCTGGCACGGGTAT TGGCAGGACTCTCCAGGTGTTTTTACCTTCTCTACTCCCAGCTCACACGG TGCCCTGGCACGGGTATTGGCAGGACTCTCCAGGC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp1 others(73): Show HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG01978.hp1 HG01981.hp1 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp2 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18971.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp2 NA19043.hp2 NA19074.hp1 NA19085.hp1 NA19240.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0006 a0008 a0010 a0011 a0012 a0017 a0019 a0020	a0001c0001 a0001c0002 a0001c0004 others(28): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0022 a0001c0046 a0001c0048 a0001c0050 a0001c0054 a0001c0055 a0001c0061 a0001c0063 a0002c0056 a0003c0025 a0003c0026 a0003c0028 a0003c0030 a0003c0060 a0005c0058 a0006c0015 a0008c0062 a0010c0021 a0011c0041 a0012c0045 a0017c0039 a0019c0034 a0020c0033	a0001c0001t0061 a0001c0002t0001 a0001c0002t0003 others(56): Show a0001c0001t0061 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0019 a0001c0002t0043 a0001c0002t0050 a0001c0002t0053 a0001c0002t0054 a0001c0002t0059 a0001c0002t0075 a0001c0002t0077 a0001c0002t0078 a0001c0002t0081 a0001c0002t0085 a0001c0004t0001 a0001c0004t0007 a0001c0004t0013 a0001c0004t0014 a0001c0004t0040 a0001c0004t0048 a0001c0004t0088 a0001c0005t0001 a0001c0005t0007 a0001c0005t0010 a0001c0005t0014 a0001c0005t0073 a0001c0009t0012 a0001c0009t0051 a0001c0010t0015 a0001c0010t0026 a0001c0013t0001 a0001c0013t0049 a0001c0014t0001 a0001c0022t0055 a0001c0046t0057 a0001c0048t0017 a0001c0050t0018 a0001c0054t0014 a0001c0055t0027 a0001c0061t0028 a0001c0063t0005 a0002c0056t0034 a0003c0025t0056 a0003c0026t0003 a0003c0028t0003 a0003c0030t0074 a0003c0060t0007 a0005c0058t0079 a0006c0015t0015 a0006c0015t0060 a0008c0062t0086 a0010c0021t0017 a0011c0041t0018 a0012c0045t0001 a0017c0039t0042 a0019c0034t0007 a0020c0033t0031	a0001c0001t0061g0031 a0001c0002t0001g0110 a0001c0002t0001g0124 others(73): Show a0001c0001t0061g0031 a0001c0002t0001g0110 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0003g0012 a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0027 a0001c0002t0003g0029 a0001c0002t0003g0032 a0001c0002t0003g0064 a0001c0002t0005g0017 a0001c0002t0005g0040 a0001c0002t0005g0132 a0001c0002t0005g0139 a0001c0002t0010g0034 a0001c0002t0010g0035 a0001c0002t0019g0061 a0001c0002t0019g0144 a0001c0002t0043g0109 a0001c0002t0050g0102 a0001c0002t0053g0121 a0001c0002t0054g0101 a0001c0002t0059g0158 a0001c0002t0075g0083 a0001c0002t0077g0063 a0001c0002t0078g0005 a0001c0002t0081g0059 a0001c0002t0085g0001 a0001c0004t0001g0093 a0001c0004t0007g0019 a0001c0004t0007g0050 a0001c0004t0013g0103 a0001c0004t0014g0077 a0001c0004t0040g0096 a0001c0004t0048g0136 a0001c0004t0088g0051 a0001c0005t0001g0115 a0001c0005t0007g0024 a0001c0005t0010g0028 a0001c0005t0010g0033 a0001c0005t0014g0069 a0001c0005t0073g0039 a0001c0009t0012g0099 a0001c0009t0012g0108 a0001c0009t0051g0090 a0001c0010t0015g0068 a0001c0010t0026g0060 a0001c0013t0001g0056 a0001c0013t0049g0153 a0001c0014t0001g0055 a0001c0014t0001g0100 a0001c0022t0055g0137 a0001c0046t0057g0079 a0001c0048t0017g0114 a0001c0050t0018g0131 a0001c0054t0014g0071 a0001c0055t0027g0080 a0001c0061t0028g0145 a0001c0063t0005g0123 a0002c0056t0034g0141 a0003c0025t0056g0057 a0003c0026t0003g0058 a0003c0028t0003g0011 a0003c0030t0074g0021 a0003c0060t0007g0037 a0005c0058t0079g0043 a0006c0015t0015g0075 a0006c0015t0060g0004 a0008c0062t0086g0148 a0010c0021t0017g0113 a0011c0041t0018g0150 a0012c0045t0001g0078 a0017c0039t0042g0146 a0019c0034t0007g0159 a0020c0033t0031g0002	76	160	0.4750	-134	c.582 others(19): Show c.5825-2286_5825-2153del	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAT2_chr7_74205006_74234834	74214489	TATATATA others(127): Show TATATATATAAATATATATATATGAAAATATATATAAATATATATATGAA TATATATATATATATATGAAAATATATATATATGAAAATATATATATAAA TATATATATGAAAATATATATAAATATATATATGA	T T	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	344	0.0029	-134	c.-21 others(17): Show c.-218-323_-218-190del	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LDLRAD3_chr11_35939062_36237136	35941890	CGGTGGCT others(127): Show CGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGG ATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGTGAAACCCC CGTTTCTACTAAAAATACAAAAATTAGCTGGGCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02523.hp2 NA19066.hp2 HG02129.hp1 HG02523.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0074 a0001c0001t0003g0075 a0001c0002t0001g0130 a0001c0001t0001g0074 a0001c0001t0003g0075 a0001c0002t0001g0130	3	236	0.0127	-134	c.-22 others(11): Show c.-2208_-2075del	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding		2171		chr11	TogoVar
LGALS3BP_chr17_78966255_78984923	78983159	TGAACCCA others(127): Show TGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCACGGTACT CCAGCCTGGGCAACAGAGCGAGATGCCGTCTCAAAAAAAAAAAAAAGAAA AGAAACTGTTTTCCAAAGTTGCTGAAACATTTTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	456	0.0022	-134	c.-34 others(11): Show c.-3493_-3360del	LGALS3BP	ENSG00000108679.13	transcript	ENST00000262776.8	protein_coding		3237		chr17	TogoVar
LIMA1_chr12_50170788_50288520	50171635	ACCTTGGC others(127): Show ACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCG GCCTAATTTTTGTATTTTTATGAGACGAGGTTTCACCATGTTGGCCAGGC TGGTCTTAAACTCCTGACCTCAGGTGATCCGCCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0162 a0001c0001t0004g0162	1	294	0.0034	-134	c.52 others(11): Show c.5295_*5428del	LIMA1	ENSG00000050405.14	transcript	ENST00000341247.9	protein_coding		4152		chr12	TogoVar
LRCH2_chrX_115105616_115239096	115125406	CATATATA others(127): Show CATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02135.hp1 HG02886.hp1 others(19): Show HG02074.hp1 HG02135.hp1 HG02886.hp1 HG03195.hp2 HG03491.hp1 HG03704.hp1 HG04115.hp1 NA18944.hp1 NA18953.hp1 NA18961.hp1 NA18970.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18990.hp1 NA19062.hp1 NA19067.hp1 NA19079.hp1 NA19082.hp1 NA19087.hp2 NA19089.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0009 a0004c0006 a0001c0001 a0001c0009 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0009t0001 a0004c0006t0001	a0001c0001t0001g0015 a0001c0001t0001g0051 a0001c0001t0001g0070 others(19): Show a0001c0001t0001g0015 a0001c0001t0001g0051 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0125 a0001c0001t0001g0155 a0001c0001t0001g0210 a0001c0001t0001g0233 a0001c0001t0002g0162 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0004g0031 a0001c0001t0004g0033 a0001c0009t0001g0236 a0004c0006t0001g0206	22	238	0.0924	-134	c.179 others(19): Show c.1791+1303_1792-1405del	LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	16/20			chrX	TogoVar
LSM3_chr3_14173817_14206122	14205905	GCCTCAGC others(127): Show GCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTG GCAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGC TGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02976.hp2 HG03471.hp2 others(2): Show HG02615.hp2 HG02976.hp2 HG03471.hp2 HG06807.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0025 a0001c0001t0036 others(1): Show a0001c0001t0002 a0001c0001t0025 a0001c0001t0036 a0001c0002t0011	a0001c0001t0002g0170 a0001c0001t0025g0037 a0001c0001t0025g0101 others(2): Show a0001c0001t0002g0170 a0001c0001t0025g0037 a0001c0001t0025g0101 a0001c0001t0036g0037 a0001c0002t0011g0158	5	396	0.0126	-134	c.77 others(11): Show c.7790_*7923del	LSM3	ENSG00000170860.4	transcript	ENST00000306024.4	protein_coding		4784		chr3	TogoVar
MARS1_chr12_57483068_57521652	57493438	TTACATAA others(127): Show TTACATAATATATAATATATTATAATATATAATATATAATATATAATATA TAATATATTATAATATATAATATATAATATATAATATATTATAATATATA ATATATTATAATATATAATATATAATATATTATAA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	288	0.0035	-134	c.770 others(17): Show c.770+2797_770+2930del	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSLN_chr16_755734_773862	767619	GGCGTGGA others(127): Show GGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTG GGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGTGTGGGGGGGCGTGGA GGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01081.hp2 others(1): Show HG00140.hp1 HG00741.hp1 HG01081.hp2 NA20752.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0014 a0001c0001 a0011c0014	a0001c0001t0001 a0011c0014t0001 a0001c0001t0001 a0011c0014t0001	a0001c0001t0001g0354 a0011c0014t0001g0003 a0001c0001t0001g0354 a0011c0014t0001g0003	4	388	0.0103	-134	c.159 others(17): Show c.1596+174_1596+307del	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MUSK_chr9_110663791_110811558	110701652	ATTTATTT others(127): Show ATTTATTTTATTTATTTTATTTTATTTTTTTTACTTTACTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0135 a0001c0001t0006g0135	1	326	0.0031	-134	c.628 others(17): Show c.628+4189_628+4322del	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYO5A_chr15_52302283_52533880	52365958	CTTAATTT others(127): Show CTTAATTTTATTTTCTGGCTCCTTTTCTTTACCTCATCCCTTAGTATGGT CATTAATTCCAGGTTTTCTTCTCTTTCCTCAGTATTAGCCCCTTCAGCTA GGAGAGGTGAGGCAGTCTCTCTTACCACCACAGTT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0146 a0001c0001t0068g0146	1	302	0.0033	-134	c.316 others(18): Show c.3160+939_3160+1072del	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	23/41			chr15	TogoVar
MYZAP_chr15_57586904_57690364	57687914	TATATAAT others(127): Show TATATAATATGTGTGTACAATATACACATATATAATATGTGTGTACAATA TACACATATATAATGTGTGTACAATATACACATATATAAATGTGTGTACA ATATACACATATATAAATGTGTGTACAATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0089 a0002c0002t0012g0089	1	352	0.0028	-134	c.34 others(11): Show c.3417_*3550del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2551		chr15	TogoVar
NCOR2_chr12_124319415_124572612	124373255	ACCCGGGC others(127): Show ACCCGGGCACAGTGGACAATCATGAGGCCAGTGCGTGTGCAGGGGCCCGG GCACAGTGGACAATCATGAGGCCAGTGCGTGTGCAGGGGCCCCGGGCACA GTGGACAATCATGAGGCCAGTGCGTGTGCAGGGGC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG00735.hp1 others(60): Show HG00280.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp2 HG02165.hp2 HG02273.hp2 HG02300.hp2 HG02698.hp2 HG02723.hp2 HG03041.hp1 HG03225.hp1 HG03471.hp2 HG03491.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18939.hp1 NA18939.hp2 NA18966.hp2 NA18979.hp1 NA18979.hp2 NA18985.hp2 NA18993.hp2 NA19043.hp2 NA19081.hp1 NA19087.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0012 a0019 a0020 a0021 a0035 a0037 a0044 a0046 a0047	a0001c0005 a0001c0022 a0001c0023 others(38): Show a0001c0005 a0001c0022 a0001c0023 a0001c0031 a0001c0032 a0001c0038 a0001c0058 a0001c0097 a0001c0131 a0001c0136 a0001c0147 a0001c0148 a0001c0149 a0002c0001 a0002c0017 a0002c0034 a0002c0039 a0002c0059 a0002c0119 a0002c0120 a0002c0121 a0002c0122 a0002c0123 a0002c0124 a0003c0012 a0003c0045 a0003c0081 a0004c0008 a0004c0010 a0004c0018 a0005c0141 a0012c0099 a0019c0046 a0019c0080 a0020c0062 a0021c0158 a0035c0098 a0037c0101 a0044c0142 a0046c0079 a0047c0078	a0001c0005t0002 a0001c0005t0003 a0001c0005t0008 others(57): Show a0001c0005t0002 a0001c0005t0003 a0001c0005t0008 a0001c0022t0002 a0001c0022t0008 a0001c0023t0004 a0001c0023t0006 a0001c0031t0013 a0001c0031t0035 a0001c0032t0002 a0001c0032t0020 a0001c0038t0005 a0001c0058t0032 a0001c0097t0002 a0001c0131t0011 a0001c0136t0003 a0001c0147t0009 a0001c0148t0009 a0001c0149t0013 a0002c0001t0001 a0002c0001t0003 a0002c0001t0007 a0002c0001t0015 a0002c0017t0068 a0002c0017t0072 a0002c0034t0006 a0002c0039t0009 a0002c0039t0015 a0002c0059t0006 a0002c0119t0079 a0002c0120t0003 a0002c0121t0028 a0002c0122t0002 a0002c0123t0013 a0002c0124t0015 a0003c0012t0002 a0003c0012t0003 a0003c0012t0013 a0003c0045t0046 a0003c0081t0030 a0004c0008t0026 a0004c0008t0029 a0004c0008t0039 a0004c0008t0048 a0004c0010t0019 a0004c0010t0021 a0004c0010t0029 a0004c0018t0031 a0004c0018t0075 a0005c0141t0010 a0012c0099t0012 a0019c0046t0059 a0019c0080t0024 a0020c0062t0002 a0021c0158t0032 a0035c0098t0007 a0037c0101t0065 a0044c0142t0073 a0046c0079t0030 a0047c0078t0018	a0001c0005t0002g0099 a0001c0005t0002g0100 a0001c0005t0003g0186 others(60): Show a0001c0005t0002g0099 a0001c0005t0002g0100 a0001c0005t0003g0186 a0001c0005t0008g0070 a0001c0022t0002g0034 a0001c0022t0008g0030 a0001c0023t0004g0051 a0001c0023t0006g0019 a0001c0031t0013g0073 a0001c0031t0035g0213 a0001c0032t0002g0078 a0001c0032t0020g0096 a0001c0038t0005g0156 a0001c0038t0005g0199 a0001c0058t0032g0007 a0001c0097t0002g0102 a0001c0131t0011g0066 a0001c0136t0003g0194 a0001c0147t0009g0097 a0001c0148t0009g0061 a0001c0149t0013g0029 a0002c0001t0001g0220 a0002c0001t0003g0157 a0002c0001t0007g0177 a0002c0001t0015g0180 a0002c0017t0068g0146 a0002c0017t0072g0147 a0002c0034t0006g0036 a0002c0034t0006g0038 a0002c0039t0009g0071 a0002c0039t0015g0226 a0002c0059t0006g0020 a0002c0119t0079g0233 a0002c0120t0003g0200 a0002c0121t0028g0117 a0002c0122t0002g0039 a0002c0123t0013g0103 a0002c0124t0015g0134 a0003c0012t0002g0014 a0003c0012t0003g0222 a0003c0012t0013g0041 a0003c0045t0046g0031 a0003c0081t0030g0075 a0004c0008t0026g0130 a0004c0008t0029g0068 a0004c0008t0039g0201 a0004c0008t0048g0060 a0004c0010t0019g0098 a0004c0010t0021g0077 a0004c0010t0029g0087 a0004c0018t0031g0084 a0004c0018t0075g0152 a0005c0141t0010g0184 a0012c0099t0012g0012 a0019c0046t0059g0153 a0019c0080t0024g0188 a0020c0062t0002g0010 a0021c0158t0032g0023 a0035c0098t0007g0178 a0037c0101t0065g0125 a0044c0142t0073g0196 a0046c0079t0030g0013 a0047c0078t0018g0123	63	234	0.2692	-134	c.221 others(17): Show c.2219-779_2219-646del	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	21/48			chr12	TogoVar
NFIC_chr19_3361583_3474217	3406304	GGCTGGTC others(127): Show GGCTGGTCTCGAACTTCTGACCTCAAGTGATCCGCCTGCCTTGGCCTCCC ATAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCTGCCTATTTTTTTT TTTTTGTAGAAATAGGGTCTCACTATGTTGCTCAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01361.hp2 others(16): Show HG00140.hp1 HG00735.hp2 HG01361.hp2 HG01515.hp1 HG02257.hp2 HG02258.hp1 HG02572.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03492.hp1 HG03540.hp1 HG03704.hp2 NA19043.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0014 a0001c0001t0025 a0001c0001t0057 others(16): Show a0001c0001t0014 a0001c0001t0025 a0001c0001t0057 a0001c0001t0115 a0001c0001t0141 a0001c0001t0202 a0001c0001t0224 a0001c0001t0226 a0001c0001t0246 a0001c0001t0249 a0001c0001t0252 a0001c0002t0041 a0001c0002t0042 a0001c0002t0048 a0001c0002t0050 a0001c0004t0010 a0001c0005t0059 a0002c0003t0209 a0002c0003t0223	a0001c0001t0014g0084 a0001c0001t0025g0073 a0001c0001t0057g0074 others(16): Show a0001c0001t0014g0084 a0001c0001t0025g0073 a0001c0001t0057g0074 a0001c0001t0115g0256 a0001c0001t0141g0225 a0001c0001t0202g0152 a0001c0001t0224g0185 a0001c0001t0226g0097 a0001c0001t0246g0086 a0001c0001t0249g0058 a0001c0001t0252g0111 a0001c0002t0041g0045 a0001c0002t0042g0100 a0001c0002t0048g0106 a0001c0002t0050g0277 a0001c0004t0010g0209 a0001c0005t0059g0242 a0002c0003t0209g0248 a0002c0003t0223g0157	19	300	0.0633	-134	c.563 others(19): Show c.563-18769_563-18636del	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	233012051	GCAAAGGG others(127): Show GCAAAGGGGAAGCCTAAATGGAAAAAGAGAGAGAGAGAGAGAGAAAGAGA GAAGGGGCAGGGAGGACAAAGACACATGGCAAGTGTCCAAGCTGGAACAT TCCCACCAGTGGCCTTATTGCATTAAGGATTTTCC	G G	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0361 a0001c0002t0035g0361	1	362	0.0028	-134	c.-75 others(16): Show c.-75+883_-75+1016del	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NIPA1_chr15_22781644_22834789	22806532	TCAGTGCT others(127): Show TCAGTGCTGCAGCTCCCTGTTGTTGCTGAGGCCGGAGGACCTGCAGATTA ATAGAGGACCGTCATCAACTGGGAAGAGGAGAAGCTTGGGCATAGATACC TACTGAGAGTGCTGGCTAATGAGCTTTCGGAACAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00558.hp1 others(196): Show HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00735.hp1 HG00741.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0005 a0003c0006 a0005c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(50): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0001t0033 a0001c0001t0047 a0001c0001t0049 a0001c0002t0001 a0001c0002t0007 a0001c0002t0013 a0001c0002t0016 a0001c0002t0018 a0001c0002t0022 a0001c0002t0024 a0001c0002t0040 a0001c0002t0041 a0001c0002t0042 a0001c0002t0045 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0006 a0002c0003t0007 a0002c0003t0008 a0002c0003t0011 a0002c0003t0015 a0002c0003t0017 a0002c0003t0023 a0002c0003t0026 a0002c0003t0027 a0002c0003t0030 a0002c0003t0032 a0002c0003t0046 a0002c0003t0048 a0002c0004t0001 a0002c0004t0004 a0002c0004t0006 a0002c0004t0007 a0002c0004t0013 a0002c0004t0016 a0002c0004t0018 a0002c0004t0022 a0002c0005t0019 a0003c0006t0003 a0005c0007t0002	a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 others(196): Show a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0002g0199 a0001c0001t0002g0221 a0001c0001t0002g0252 a0001c0001t0003g0135 a0001c0001t0003g0144 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0151 a0001c0001t0003g0234 a0001c0001t0003g0251 a0001c0001t0004g0152 a0001c0001t0004g0358 a0001c0001t0004g0359 a0001c0001t0004g0361 a0001c0001t0004g0373 a0001c0001t0005g0362 a0001c0001t0008g0048 a0001c0001t0008g0345 a0001c0001t0009g0110 a0001c0001t0009g0113 a0001c0001t0010g0128 a0001c0001t0011g0292 a0001c0001t0011g0330 a0001c0001t0011g0334 a0001c0001t0011g0335 a0001c0001t0011g0337 a0001c0001t0011g0338 a0001c0001t0011g0340 a0001c0001t0012g0122 a0001c0001t0014g0103 a0001c0001t0014g0118 a0001c0001t0014g0155 a0001c0001t0014g0176 a0001c0001t0014g0323 a0001c0001t0014g0325 a0001c0001t0020g0279 a0001c0001t0020g0280 a0001c0001t0020g0320 a0001c0001t0033g0109 a0001c0001t0047g0278 a0001c0001t0049g0319 a0001c0002t0001g0029 a0001c0002t0001g0036 a0001c0002t0001g0101 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0137 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0142 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0329 a0001c0002t0001g0331 a0001c0002t0001g0372 a0001c0002t0007g0102 a0001c0002t0013g0024 a0001c0002t0013g0120 a0001c0002t0013g0121 a0001c0002t0013g0286 a0001c0002t0016g0114 a0001c0002t0016g0336 a0001c0002t0016g0339 a0001c0002t0018g0129 a0001c0002t0018g0138 a0001c0002t0018g0332 a0001c0002t0022g0324 a0001c0002t0024g0333 a0001c0002t0040g0375 a0001c0002t0041g0100 a0001c0002t0042g0156 a0001c0002t0045g0105 a0002c0003t0002g0023 a0002c0003t0002g0183 a0002c0003t0002g0186 a0002c0003t0002g0195 a0002c0003t0002g0215 a0002c0003t0002g0222 a0002c0003t0002g0229 a0002c0003t0003g0006 a0002c0003t0003g0007 a0002c0003t0003g0008 a0002c0003t0003g0012 a0002c0003t0003g0013 a0002c0003t0003g0015 a0002c0003t0003g0017 a0002c0003t0003g0018 a0002c0003t0003g0019 a0002c0003t0003g0022 a0002c0003t0003g0189 a0002c0003t0003g0192 a0002c0003t0003g0219 a0002c0003t0003g0220 a0002c0003t0003g0223 a0002c0003t0003g0225 a0002c0003t0003g0227 a0002c0003t0003g0230 a0002c0003t0003g0231 a0002c0003t0003g0232 a0002c0003t0003g0235 a0002c0003t0003g0253 a0002c0003t0003g0255 a0002c0003t0003g0256 a0002c0003t0003g0258 a0002c0003t0003g0259 a0002c0003t0003g0261 a0002c0003t0004g0005 a0002c0003t0004g0182 a0002c0003t0004g0196 a0002c0003t0005g0181 a0002c0003t0005g0226 a0002c0003t0005g0238 a0002c0003t0005g0239 a0002c0003t0005g0244 a0002c0003t0006g0201 a0002c0003t0007g0213 a0002c0003t0008g0009 a0002c0003t0008g0014 a0002c0003t0008g0020 a0002c0003t0008g0021 a0002c0003t0011g0162 a0002c0003t0015g0185 a0002c0003t0015g0218 a0002c0003t0015g0250 a0002c0003t0017g0267 a0002c0003t0017g0268 a0002c0003t0017g0269 a0002c0003t0017g0271 a0002c0003t0023g0248 a0002c0003t0023g0262 a0002c0003t0026g0228 a0002c0003t0027g0184 a0002c0003t0030g0010 a0002c0003t0032g0216 a0002c0003t0046g0270 a0002c0003t0048g0098 a0002c0004t0001g0016 a0002c0004t0001g0161 a0002c0004t0001g0179 a0002c0004t0001g0187 a0002c0004t0001g0190 a0002c0004t0001g0191 a0002c0004t0001g0197 a0002c0004t0001g0243 a0002c0004t0001g0245 a0002c0004t0001g0249 a0002c0004t0001g0266 a0002c0004t0001g0281 a0002c0004t0001g0282 a0002c0004t0001g0283 a0002c0004t0001g0321 a0002c0004t0001g0322 a0002c0004t0004g0198 a0002c0004t0006g0096 a0002c0004t0006g0097 a0002c0004t0006g0200 a0002c0004t0007g0166 a0002c0004t0007g0208 a0002c0004t0007g0209 a0002c0004t0007g0210 a0002c0004t0007g0211 a0002c0004t0007g0212 a0002c0004t0007g0265 a0002c0004t0013g0263 a0002c0004t0013g0272 a0002c0004t0016g0167 a0002c0004t0016g0169 a0002c0004t0018g0273 a0002c0004t0022g0326 a0002c0005t0019g0224 a0002c0005t0019g0233 a0002c0005t0019g0236 a0003c0006t0003g0242 a0003c0006t0003g0254 a0005c0007t0002g0011	199	400	0.4975	-134	c.179 others(17): Show c.179-4209_179-4076del	NIPA1	ENSG00000170113.16	transcript	ENST00000337435.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
NPAS1_chr19_47014837_47050775	47034937	TTTGGGAG others(127): Show TTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCGGGAGTTTGAGACCA GCCTGACCAACATGGAGAAACCCCGTCTGTACTAAAAATACAAAATTAGC CAGGTGTGTTGGCACATGCCTGTAATCCCAGCTTC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0351 a0001c0002t0001g0351	1	418	0.0024	-134	c.523 others(16): Show c.523-1017_523-884del	NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
NR6A1_chr9_124512275_124776311	124579144	ATGGTGGC others(127): Show ATGGTGGCATGCACCTGTGGTCCCAGCTACCTGGGAGGCTTAGGTGGAGG ATTGCCTGAGCTCAAGAGTTTGAGACTAGCCCTGGCTACATAGCAAGATC CTGTCCCTACAAAAAATTTAAAACTTAGCCAAGTG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03130.hp1 HG02818.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0034 a0001c0001t0004 a0001c0001t0034	a0001c0001t0004g0209 a0001c0001t0034g0210 a0001c0001t0004g0209 a0001c0001t0034g0210	2	234	0.0086	-134	c.143 others(19): Show c.143-24708_143-24575del	NR6A1	ENSG00000148200.17	transcript	ENST00000487099.7	protein_coding	2/9			chr9	TogoVar
OR51A7_chr11_4898783_4914462	4911761	CCCACTAT others(127): Show CCCACTATGTTTCCTTCAGAGTACTTTGCAGTTTATGAAATAGTTAATCA TTTACTGTGCTGTTGTCTGTCTCTACCACCAAAATGTAAGTCAGGAGAAC AGGTTTTGTTATCCTTTTGCCCACTATATTCCTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	-134	c.34 others(11): Show c.3454_*3587del	OR51A7	ENSG00000176895.9	transcript	ENST00000641490.1	protein_coding		2300		chr11	TogoVar
P2RX5_chr17_3668227_3701155	3686373	CCCCCGCC others(127): Show CCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGAC CCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCAC AGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01993.hp2 HG02056.hp2 HG00735.hp2 HG01993.hp2 HG02056.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0039 a0001c0001t0001g0051 a0002c0002t0001g0095 a0001c0001t0001g0039 a0001c0001t0001g0051 a0002c0002t0001g0095	3	362	0.0083	-134	c.981 others(17): Show c.981+1505_981+1638del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PARD6G_chr18_80152232_80252514	80153303	GGCCTCCC others(127): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAG TTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTC TCGAACTCTCAACCTCAGGTGATCCAGCTGCCTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0028 a0002c0006t0028	a0002c0006t0028g0081 a0002c0006t0028g0081	1	382	0.0026	-134	c.63 others(11): Show c.6334_*6467del	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding		3928		chr18	TogoVar
PARVB_chr22_44019302_44177939	44029564	CCAGGAGT others(127): Show CCAGGAGTTTGAGACCAGCCTGGCCAACGTGGGGAAACCCGGTCTCTACT AAAAATAGAAAAATTAGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCTGAAGCGGCAGATCACCTGAGGT	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0205 a0001c0001t0023g0205	1	332	0.0030	-134	c.112 others(17): Show c.112+5145_112+5278del	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PDE4D_chr5_58964038_59898726	58978199	AAGCCCAG others(127): Show AAGCCCAGGAGTTCAAGACCAGCCTGGTCAACATAGGGAGACCTCATCTC GACAAATAATAAAAAATTATCTGGGGATGGTAGGGCGTGCCTGTAGTCCC AGCTACTTGGGATGCTGAGGTAGGAGGATTGCTTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01952.hp1 HG02451.hp2 others(4): Show HG00140.hp2 HG01952.hp1 HG02451.hp2 HG02723.hp2 HG02895.hp2 HG03225.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0001t0003 a0001c0001t0008 a0001c0001t0013	a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0045 others(4): Show a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0072 a0001c0001t0008g0047 a0001c0001t0008g0057 a0001c0001t0013g0009	7	74	0.0946	-134	c.155 others(17): Show c.1553-988_1553-855del	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	11/14			chr5	TogoVar
PDE6B_chr4_620573_675782	634916	TTTACCTG others(127): Show TTTACCTGCCTGCCCGCCTGCCCGTGTGTTCTCTGCTGCGTGTCTGCCTC CTTACCTGCCTGCCCGCGTGTTCTGTGCTGCGTGTCTGCCTCCTTACCTG CCTGCCCGCGTGTTCTGTGCTGCGCGTCCACCTCC	T T	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	308	0.0033	-134	c.621 others(15): Show c.621+245_621+378del	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PEX5_chr12_7184686_7216459	7196838	GTAATAAT others(127): Show GTAATAATTATATATGTCACATATAATGTAATAATTATATATGTCACATA TAATGTAATAATTATATATGTCACATATAATGTAATAATTATATGTCACA TATAATGTAATAATTATATGTCACATATAATGTAA	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03669.hp1 NA18972.hp2 HG03654.hp1 HG03669.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0049 a0001c0001t0001g0139 a0001c0001t0001g0146	3	428	0.0070	-134	c.449 others(17): Show c.449-2168_449-2035del	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIAS4_chr19_4002736_4044386	4011758	TGGGGTGT others(127): Show TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0166 a0001c0002t0004g0166	1	334	0.0030	-134	c.28- others(14): Show c.28-1062_28-929del	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIEZO1_chr16_88710338_88790220	88710469	TGTGTGTG others(127): Show TGTGTGTGCGGCCCACTCTCAGATGTGTTTACAGCAGGTGCACAAATCAG AAGCTGGGTCCACAGCGCGTGTGTGCGGCCCACTCTCAGATGTGTTTACA GCAGGTGCACAAATCAGAAGCTGGGTCCACAGTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02965.hp2 HG02630.hp2 HG02965.hp2	a0021 a0021	a0021c0069 a0021c0133 a0021c0069 a0021c0133	a0021c0069t0001 a0021c0133t0001 a0021c0069t0001 a0021c0133t0001	a0021c0069t0001g0114 a0021c0133t0001g0160 a0021c0069t0001g0114 a0021c0133t0001g0160	2	282	0.0071	-134	c.50 others(11): Show c.5002_*5135del	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		4868		chr16	TogoVar
PIP4K2A_chr10_22529854_22719578	22664034	TATATATA others(127): Show TATATATATATATACATATGTATATATACATATATATATATACGTATATA TATATACATATATATATATACATATATATATACATATATATATATACATA TATATATACATATATATACACATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	206	0.0049	-134	c.144 others(19): Show c.144+50015_144+50148del	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PLPBP_chr8_37757645_37784768	37770690	GCCTCAGC others(127): Show GCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCCCCACCATGCTGG CTAATTTTTGTATTTTTGGTAAAGACGGGGTTTCACCATGTTGGCCAGGC TGGTCTCCAATTCCTGACCTCAGGTGATCCGCCCA	G G	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02071.hp2 NA18944.hp2 others(3): Show HG01928.hp2 HG02071.hp2 NA18944.hp2 NA19066.hp1 NA19075.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0014 a0001c0001t0002g0090 a0001c0001t0002g0158 others(1): Show a0001c0001t0002g0014 a0001c0001t0002g0090 a0001c0001t0002g0158 a0001c0001t0007g0174	6	348	0.0172	-134	c.320 others(17): Show c.320-2049_320-1916del	PLPBP	ENSG00000147471.12	transcript	ENST00000328195.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
PNCK_chrX_153664733_153678813	153677042	CGATTCTC others(127): Show CGATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCC ACCACGCTGGGCTAATTTTTGTATTTTTGGGTAGAGACAGTTTCACCATG TTGGCAGGCTGATCTCGAACTCCTGACCTCAGATG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	276	0.0036	-134	c.-33 others(11): Show c.-3399_-3266del	PNCK	ENSG00000130822.16	transcript	ENST00000340888.8	protein_coding		3230		chrX	TogoVar
PNKD_chr2_218265519_218351793	218338034	CTACTCAG others(127): Show CTACTCAGGAGGCTGAGGCAGGAGAATCGCCTGAACCTGGGAGGCAGAGG TTGCAGTGAGCTGAGATTGCACCACTGCACCCCTGCCTGACGACAGAGTG AGACTCCCTCTCAAAAACAAACAAACAAACAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	280	0.0036	-134	c.237 others(17): Show c.237-1747_237-1614del	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNPLA7_chr9_137454952_137555402	137517894	CACTCTGT others(127): Show CACTCTGTCCACTCCATCCCCCGTCACTCACTCCACTCTGTCCACTCCAT CCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTCACTC CACTCTGCTCACTCCATCCCCCACTCACTCACTCG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03130.hp1 HG03471.hp2 HG01891.hp1 HG03130.hp1 HG03471.hp2	a0003 a0010 a0003 a0010	a0003c0058 a0010c0013 a0003c0058 a0010c0013	a0003c0058t0001 a0010c0013t0001 a0010c0013t0002 a0003c0058t0001 a0010c0013t0001 a0010c0013t0002	a0003c0058t0001g0176 a0010c0013t0001g0166 a0010c0013t0002g0165 a0003c0058t0001g0176 a0010c0013t0001g0166 a0010c0013t0002g0165	3	188	0.0160	-134	c.108 others(19): Show c.1084+1889_1084+2022del	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar

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