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
NFIC_chr19_3361583_3474217	3467781	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02970.hp1 HG03579.hp1 HG02145.hp1 HG02970.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0054 a0002c0003t0198 a0002c0003t0200 a0001c0002t0054 a0002c0003t0198 a0002c0003t0200	a0001c0002t0054g0108 a0002c0003t0198g0291 a0002c0003t0200g0219 a0001c0002t0054g0108 a0002c0003t0198g0291 a0002c0003t0200g0219	3	300	0.0100	22	c.50 others(33): Show c.5020_*5021insTATATATATATATGTATATATA	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	11/11	5021	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8653038	T T	TTCTTTCT others(15): Show TTCTTTCTCTCTCCCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01099.hp1 HG02148.hp2 others(1): Show HG01069.hp2 HG01099.hp1 HG02148.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0020 a0001c0001t0148 others(1): Show a0001c0001t0003 a0001c0001t0020 a0001c0001t0148 a0001c0001t0155	a0001c0001t0003g0016 a0001c0001t0020g0249 a0001c0001t0148g0020 others(1): Show a0001c0001t0003g0016 a0001c0001t0020g0249 a0001c0001t0148g0020 a0001c0001t0155g0022	4	366	0.0109	22	c.-16 others(43): Show c.-164+17295_-164+17296insTTCTCTCTCCCTCTCTCTCTCT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8653038	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTCTCTCCCTCTC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0027	1	366	0.0027	22	c.-16 others(43): Show c.-164+17295_-164+17296insTTCTTTCTCTCTCCCTCTCTCT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8653038	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTCTCTCCC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0049 a0001c0001t0044g0049	1	366	0.0027	22	c.-16 others(43): Show c.-164+17295_-164+17296insTTCTTTCTTTCTCTCTCCCTCT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8663736	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTATGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0104 a0001c0001t0004g0104	1	366	0.0027	22	c.-16 others(43): Show c.-163-10804_-163-10803insATGTGTGTGTATGTGTGTGTGT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8663738	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTATGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01358.hp2 HG00140.hp2 HG01358.hp2	a0003 a0008 a0003 a0008	a0003c0003 a0008c0008 a0003c0003 a0008c0008	a0003c0003t0011 a0008c0008t0040 a0003c0003t0011 a0008c0008t0040	a0003c0003t0011g0053 a0008c0008t0040g0289 a0003c0003t0011g0053 a0008c0008t0040g0289	2	366	0.0055	22	c.-16 others(43): Show c.-163-10802_-163-10801insATGTGTGTGTATGTGTGTGTGT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8663750	G G	GTGTATGT others(15): Show GTGTATGTGTGTGTATGTGTGTA	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA19240.hp1 HG01934.hp1 NA19240.hp1	a0006 a0014 a0006 a0014	a0006c0006 a0014c0015 a0006c0006 a0014c0015	a0006c0006t0017 a0014c0015t0055 a0006c0006t0017 a0014c0015t0055	a0006c0006t0017g0287 a0014c0015t0055g0097 a0006c0006t0017g0287 a0014c0015t0055g0097	2	366	0.0055	22	c.-16 others(43): Show c.-163-10798_-163-10797insATGTGTGTGTATGTGTGTATGT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFIX_chr19_12990475_13103796	13023070	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0116 a0001c0001t0029g0116	1	252	0.0040	22	c.28- others(37): Show c.28-1945_28-1924dupCTCTCTCTCTCTCTCTCTCTCT	NFIX	ENSG00000008441.19	transcript	ENST00000592199.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFIX_chr19_12990475_13103796	13078780	T T	TGAGTATC others(15): Show TGAGTATCTAGGGGCAGCTGGCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG02486.hp1 others(13): Show HG02109.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02723.hp1 HG02818.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03516.hp1 HG03579.hp2 NA19030.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0032 a0001c0001t0036	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(13): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0008g0006 a0001c0001t0009g0007 a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0032g0157 a0001c0001t0036g0011	16	252	0.0635	22	c.107 others(37): Show c.1078+46_1078+67dupGAGTATCTAGGGGCAGCTGGCC	NFIX	ENSG00000008441.19	transcript	ENST00000592199.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFKB1_chr4_102496359_102622302	102551367	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGCACGCGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03041.hp1 HG03130.hp1 others(1): Show HG01192.hp2 HG03041.hp1 HG03130.hp1 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0194 a0002c0003t0001g0195 a0002c0003t0001g0196 others(1): Show a0002c0003t0001g0194 a0002c0003t0001g0195 a0002c0003t0001g0196 a0002c0003t0001g0214	4	328	0.0122	22	c.258 others(41): Show c.258+13412_258+13413insTGTGTGTGTGTGTGCACGCGCG	NFKB1	ENSG00000109320.14	transcript	ENST00000226574.9	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
NFKB1_chr4_102496359_102622302	102609158	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	328	0.0031	22	c.222 others(41): Show c.2228-1405_2228-1404insAAAAAAAAAAAAAAAAAAAAAA	NFKB1	ENSG00000109320.14	transcript	ENST00000226574.9	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
NFKBIE_chr6_44253166_44270551	44263338	T T	TAGGGGTA others(15): Show TAGGGGTAATGGGGGCAGTTGGG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	454	0.0022	22	c.366 others(37): Show c.366-698_366-677dupCCCAACTGCCCCCATTACCCCT	NFKBIE	ENSG00000146232.17	transcript	ENST00000619360.6	protein_coding	1/5			chr6	TogoVar
NFU1_chr2_69391126_69442435	69404615	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02015.hp1 HG02080.hp1 others(4): Show HG00408.hp2 HG02015.hp1 HG02080.hp1 NA18968.hp2 NA19005.hp2 NA19062.hp2 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0033 a0001c0001t0001g0041 a0002c0002t0001g0274 others(4): Show a0001c0001t0001g0033 a0001c0001t0001g0041 a0002c0002t0001g0274 a0002c0002t0001g0284 a0002c0002t0001g0286 a0002c0002t0001g0302 a0002c0002t0001g0306	7	368	0.0190	22	c.545 others(39): Show c.545+1385_545+1406dupAAAAAAAAAAAAAAAAAAAAAA	NFU1	ENSG00000169599.13	transcript	ENST00000410022.7	protein_coding	6/7			chr2	TogoVar
NGEF_chr2_232873701_233018256	232880770	A A	ACAGGTCT others(15): Show ACAGGTCTGGGTCAGGTCAGGGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(281): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18992.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0012 a0001c0013 a0002c0006 a0002c0008 a0002c0009 a0002c0010 a0002c0014 a0002c0018 a0003c0019 a0004c0016 a0005c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(61): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0002t0003 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0016 a0001c0002t0021 a0001c0002t0028 a0001c0002t0034 a0001c0002t0035 a0001c0003t0002 a0001c0003t0005 a0001c0003t0010 a0001c0003t0019 a0001c0003t0027 a0001c0004t0003 a0001c0004t0004 a0001c0004t0014 a0001c0004t0017 a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 a0001c0005t0006 a0001c0005t0016 a0001c0012t0001 a0001c0012t0010 a0001c0013t0001 a0002c0006t0001 a0002c0006t0002 a0002c0006t0005 a0002c0006t0006 a0002c0006t0007 a0002c0006t0008 a0002c0006t0030 a0002c0008t0004 a0002c0008t0017 a0002c0009t0002 a0002c0009t0005 a0002c0010t0001 a0002c0010t0003 a0002c0010t0012 a0002c0014t0002 a0002c0018t0002 a0003c0019t0003 a0004c0016t0022 a0005c0017t0003	a0001c0001t0001g0043 a0001c0001t0001g0064 a0001c0001t0001g0065 others(280): Show a0001c0001t0001g0043 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0125 a0001c0001t0001g0165 a0001c0001t0002g0001 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0051 a0001c0001t0002g0057 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0002g0123 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0166 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0188 a0001c0001t0002g0198 a0001c0001t0002g0213 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0241 a0001c0001t0002g0257 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0283 a0001c0001t0002g0293 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0336 a0001c0001t0002g0356 a0001c0001t0003g0279 a0001c0001t0003g0358 a0001c0001t0005g0160 a0001c0001t0006g0013 a0001c0001t0006g0083 a0001c0001t0006g0108 a0001c0001t0006g0207 a0001c0001t0006g0249 a0001c0001t0006g0275 a0001c0001t0006g0301 a0001c0001t0006g0308 a0001c0001t0006g0347 a0001c0001t0006g0348 a0001c0001t0007g0044 a0001c0001t0007g0172 a0001c0001t0007g0319 a0001c0001t0007g0320 a0001c0001t0008g0059 a0001c0001t0008g0060 a0001c0001t0008g0107 a0001c0001t0008g0119 a0001c0001t0008g0135 a0001c0001t0008g0161 a0001c0001t0008g0176 a0001c0001t0008g0230 a0001c0001t0008g0345 a0001c0001t0008g0346 a0001c0001t0009g0040 a0001c0001t0009g0203 a0001c0001t0009g0233 a0001c0001t0009g0245 a0001c0001t0009g0270 a0001c0001t0009g0333 a0001c0001t0013g0053 a0001c0001t0013g0054 a0001c0001t0013g0055 a0001c0001t0013g0137 a0001c0001t0013g0193 a0001c0001t0014g0129 a0001c0001t0014g0130 a0001c0001t0015g0236 a0001c0001t0015g0276 a0001c0001t0015g0280 a0001c0001t0015g0281 a0001c0001t0016g0238 a0001c0001t0023g0011 a0001c0001t0025g0008 a0001c0001t0026g0261 a0001c0001t0029g0128 a0001c0001t0031g0021 a0001c0001t0032g0234 a0001c0001t0033g0106 a0001c0002t0003g0012 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0127 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0163 a0001c0002t0003g0167 a0001c0002t0003g0202 a0001c0002t0003g0211 a0001c0002t0003g0215 a0001c0002t0003g0240 a0001c0002t0003g0242 a0001c0002t0003g0262 a0001c0002t0003g0268 a0001c0002t0003g0282 a0001c0002t0003g0290 a0001c0002t0003g0298 a0001c0002t0003g0305 a0001c0002t0003g0309 a0001c0002t0003g0312 a0001c0002t0003g0313 a0001c0002t0003g0314 a0001c0002t0003g0352 a0001c0002t0009g0116 a0001c0002t0011g0019 a0001c0002t0011g0122 a0001c0002t0011g0131 a0001c0002t0011g0133 a0001c0002t0011g0140 a0001c0002t0011g0251 a0001c0002t0011g0289 a0001c0002t0011g0291 a0001c0002t0012g0056 a0001c0002t0012g0063 a0001c0002t0012g0068 a0001c0002t0012g0200 a0001c0002t0012g0225 a0001c0002t0016g0023 a0001c0002t0021g0009 a0001c0002t0028g0020 a0001c0002t0034g0360 a0001c0002t0035g0361 a0001c0003t0002g0087 a0001c0003t0002g0134 a0001c0003t0002g0186 a0001c0003t0002g0294 a0001c0003t0002g0303 a0001c0003t0005g0041 a0001c0003t0005g0066 a0001c0003t0005g0113 a0001c0003t0005g0136 a0001c0003t0005g0154 a0001c0003t0005g0162 a0001c0003t0005g0169 a0001c0003t0005g0170 a0001c0003t0005g0190 a0001c0003t0005g0197 a0001c0003t0005g0201 a0001c0003t0005g0212 a0001c0003t0005g0214 a0001c0003t0005g0217 a0001c0003t0005g0229 a0001c0003t0005g0286 a0001c0003t0005g0299 a0001c0003t0005g0300 a0001c0003t0005g0302 a0001c0003t0005g0304 a0001c0003t0005g0307 a0001c0003t0005g0332 a0001c0003t0005g0343 a0001c0003t0005g0344 a0001c0003t0005g0351 a0001c0003t0010g0022 a0001c0003t0010g0048 a0001c0003t0010g0146 a0001c0003t0010g0147 a0001c0003t0010g0148 a0001c0003t0010g0149 a0001c0003t0010g0151 a0001c0003t0010g0335 a0001c0003t0019g0126 a0001c0003t0019g0159 a0001c0003t0027g0016 a0001c0004t0003g0168 a0001c0004t0003g0189 a0001c0004t0003g0194 a0001c0004t0003g0205 a0001c0004t0003g0206 a0001c0004t0003g0209 a0001c0004t0003g0216 a0001c0004t0003g0244 a0001c0004t0004g0032 a0001c0004t0004g0033 a0001c0004t0004g0034 a0001c0004t0004g0035 a0001c0004t0004g0036 a0001c0004t0004g0037 a0001c0004t0004g0038 a0001c0004t0004g0039 a0001c0004t0004g0045 a0001c0004t0004g0067 a0001c0004t0004g0072 a0001c0004t0004g0080 a0001c0004t0004g0086 a0001c0004t0004g0090 a0001c0004t0004g0099 a0001c0004t0004g0138 a0001c0004t0004g0174 a0001c0004t0004g0192 a0001c0004t0004g0195 a0001c0004t0004g0196 a0001c0004t0004g0210 a0001c0004t0004g0218 a0001c0004t0004g0219 a0001c0004t0004g0220 a0001c0004t0004g0221 a0001c0004t0004g0223 a0001c0004t0004g0226 a0001c0004t0004g0243 a0001c0004t0004g0331 a0001c0004t0014g0187 a0001c0004t0014g0208 a0001c0004t0017g0003 a0001c0005t0001g0117 a0001c0005t0002g0015 a0001c0005t0005g0287 a0001c0005t0006g0105 a0001c0005t0016g0248 a0001c0012t0001g0058 a0001c0012t0010g0340 a0001c0013t0001g0027 a0001c0013t0001g0256 a0001c0013t0001g0278 a0002c0006t0001g0103 a0002c0006t0002g0354 a0002c0006t0005g0288 a0002c0006t0006g0018 a0002c0006t0006g0074 a0002c0006t0006g0076 a0002c0006t0006g0095 a0002c0006t0006g0295 a0002c0006t0007g0031 a0002c0006t0008g0096 a0002c0006t0008g0100 a0002c0006t0008g0111 a0002c0006t0008g0124 a0002c0006t0030g0341 a0002c0008t0004g0069 a0002c0008t0004g0073 a0002c0008t0004g0078 a0002c0008t0004g0079 a0002c0008t0004g0081 a0002c0008t0004g0082 a0002c0008t0004g0091 a0002c0008t0004g0132 a0002c0008t0004g0143 a0002c0008t0004g0144 a0002c0008t0004g0145 a0002c0008t0004g0357 a0002c0008t0017g0005 a0002c0009t0002g0253 a0002c0009t0002g0254 a0002c0009t0002g0255 a0002c0009t0005g0077 a0002c0009t0005g0142 a0002c0009t0005g0224 a0002c0009t0005g0321 a0002c0009t0005g0324 a0002c0009t0005g0325 a0002c0009t0005g0328 a0002c0010t0001g0250 a0002c0010t0003g0139 a0002c0010t0003g0292 a0002c0010t0003g0297 a0002c0010t0003g0322 a0002c0010t0003g0323 a0002c0010t0003g0326 a0002c0010t0003g0327 a0002c0010t0012g0296 a0002c0014t0002g0071 a0002c0014t0002g0355 a0002c0018t0002g0359 a0003c0019t0003g0191 a0004c0016t0022g0006 a0005c0017t0003g0260	284	362	0.7845	22	c.194 others(39): Show c.1942+375_1942+376insACCCTGACCTGACCCAGACCTG	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	14/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232880779	G G	GGTCAGGT others(15): Show GGTCAGGTCAGGGTCAGGTCTGA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0267 a0001c0003t0005g0267	1	362	0.0028	22	c.194 others(39): Show c.1942+366_1942+367insTCAGACCTGACCCTGACCTGAC	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	14/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232944726	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18998.hp1 NA19004.hp2 NA18962.hp1 NA18998.hp1 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0002c0008 a0001c0003 a0001c0005 a0002c0008	a0001c0003t0005 a0001c0005t0009 a0002c0008t0004 a0001c0003t0005 a0001c0005t0009 a0002c0008t0004	a0001c0003t0005g0229 a0001c0005t0009g0014 a0002c0008t0004g0081 a0001c0003t0005g0229 a0001c0005t0009g0014 a0002c0008t0004g0081	3	362	0.0083	22	c.384 others(41): Show c.384-17562_384-17541dupATATATATATATATATATATAT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	3/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232968093	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02080.hp1 HG02647.hp1 others(3): Show HG02055.hp2 HG02080.hp1 HG02647.hp1 HG03041.hp2 HG03540.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0001c0013	a0001c0001t0002 a0001c0005t0006 a0001c0007t0001 others(1): Show a0001c0001t0002 a0001c0005t0006 a0001c0007t0001 a0001c0013t0001	a0001c0001t0002g0123 a0001c0001t0002g0283 a0001c0005t0006g0105 others(3): Show a0001c0001t0002g0123 a0001c0001t0002g0283 a0001c0005t0006g0105 a0001c0007t0001g0098 a0001c0013t0001g0027 a0001c0013t0001g0278	6	362	0.0166	22	c.383 others(39): Show c.383+2120_383+2121insAAAAAAAAAAAAAAAAAAAAAA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	3/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995360	A A	ATATATAC others(15): Show ATATATACACTATGCAGTATGTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02148.hp2 others(1): Show HG01070.hp2 HG01071.hp2 HG02148.hp2 HG02293.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0011 a0001c0003 a0001c0005 a0001c0011	a0001c0003t0005 a0001c0005t0001 a0001c0011t0001 a0001c0003t0005 a0001c0005t0001 a0001c0011t0001	a0001c0003t0005g0286 a0001c0005t0001g0285 a0001c0011t0001g0089 others(1): Show a0001c0003t0005g0286 a0001c0005t0001g0285 a0001c0011t0001g0089 a0001c0011t0001g0114	4	362	0.0111	22	c.-75 others(41): Show c.-75+17707_-75+17708insCACATACTGCATAGTGTATATA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995572	A A	ATATATAC others(15): Show ATATATACACAGTATGTATACTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03579.hp1 HG02109.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0015 a0001c0001t0008 a0001c0001t0015	a0001c0001t0008g0235 a0001c0001t0015g0236 a0001c0001t0008g0235 a0001c0001t0015g0236	2	362	0.0055	22	c.-75 others(41): Show c.-75+17495_-75+17496insCAGTATACATACTGTGTATATA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995572	A A	ATATATAT others(15): Show ATATATATACAGTATGTATACTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG04115.hp1 NA18970.hp1 others(3): Show HG01109.hp1 HG04115.hp1 NA18970.hp1 NA19055.hp2 NA19074.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 a0001c0001t0029 a0002c0008t0004	a0001c0001t0001g0094 a0001c0001t0002g0109 a0001c0001t0008g0119 others(3): Show a0001c0001t0001g0094 a0001c0001t0002g0109 a0001c0001t0008g0119 a0001c0001t0014g0129 a0001c0001t0029g0128 a0002c0008t0004g0357	6	362	0.0166	22	c.-75 others(41): Show c.-75+17495_-75+17496insCAGTATACATACTGTATATATA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGF_chr1_115280917_115343249	115337267	G G	GTTTGTTT others(15): Show GTTTGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03579.hp1 HG06807.hp2 others(1): Show HG03139.hp1 HG03579.hp1 HG06807.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0141 a0001c0003t0001g0143 a0002c0002t0001g0140 others(1): Show a0001c0001t0001g0141 a0001c0003t0001g0143 a0002c0002t0001g0140 a0002c0002t0001g0142	4	418	0.0096	22	c.-13 others(39): Show c.-137+936_-137+937insAAAAAAAAAAAAAAAAAACAAA	NGF	ENSG00000134259.6	transcript	ENST00000369512.3	protein_coding	1/2			chr1	TogoVar
NGLY1_chr3_25713944_25788443	25783480	A A	ACCGGCAG others(15): Show ACCGGCAGGGGCGGGGTCCTCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01257.hp1 HG01258.hp1 others(18): Show HG01070.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01496.hp2 HG01928.hp1 HG02280.hp1 HG02723.hp2 HG02809.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03710.hp2 NA18906.hp2 NA18945.hp1 NA18949.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0021 others(17): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0065 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0005g0011 a0001c0002t0001g0058	21	264	0.0796	22	c.-11 others(30): Show c.-112_-91dupCCGAGGACCCCGCCCCTGCCGG	NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding		38		chr3	TogoVar
NHEJ1_chr2_219064357_219165815	219080693	A A	ATATATAT others(15): Show ATATATATGCTAATATATATGCT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA21309.hp2 HG03486.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0116 a0001c0001t0002g0033 a0001c0001t0002g0116	2	350	0.0057	22	c.589 others(39): Show c.589-2488_589-2487insAGCATATATATTAGCATATATA	NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	5/7			chr2	TogoVar
NHEJ1_chr2_219064357_219165815	219159540	T T	TATATATA others(15): Show TATATATATGCATATATATATGC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02922.hp2 HG03209.hp2 others(1): Show HG01975.hp1 HG02922.hp2 HG03209.hp2 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0009 a0001c0001t0001 a0003c0003t0009	a0001c0001t0001g0325 a0003c0003t0009g0322 a0003c0003t0009g0323 others(1): Show a0001c0001t0001g0325 a0003c0003t0009g0322 a0003c0003t0009g0323 a0003c0003t0009g0324	4	350	0.0114	22	c.-1+ others(36): Show c.-1+1179_1-1178insGCATATATATATGCATATATAT	NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	1/7			chr2	TogoVar
NHERF1_chr17_74743628_74774353	74744638	T T	TAAGAGTG others(15): Show TAAGAGTGCAAAGGGTTAGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	370	0.0027	22	c.-42 others(33): Show c.-4209_-4208insAAGAGTGCAAAGGGTTAGCCCC	NHERF1	ENSG00000109062.12	transcript	ENST00000262613.10	protein_coding		3989		chr17	TogoVar
NHERF1_chr17_74743628_74774353	74771924	A A	AGTTGAAA others(15): Show AGTTGAAAATATAGGAAATGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	370	0.0027	22	c.32 others(33): Show c.3268_*3269insGTTGAAAATATAGGAAATGGTT	NHERF1	ENSG00000109062.12	transcript	ENST00000262613.10	protein_coding		2572		chr17	TogoVar
NHLRC4_chr16_562005_574495	571038	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp1 NA19074.hp1 NA18997.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	424	0.0047	22	c.26 others(33): Show c.2619_*2620insGTGTGTGTGTGTGTGTGTGTGT	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1544		chr16	TogoVar
NHSL2_chrX_71905845_72158286	71951005	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19065.hp2 NA19056.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0069 a0001c0001t0001 a0001c0001t0069	a0001c0001t0001g0010 a0001c0001t0069g0048 a0001c0001t0001g0010 a0001c0001t0069g0048	2	187	0.0107	22	c.280 others(41): Show c.280+39652_280+39673dupCACACACACACACACACACACA	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHSL2_chrX_71905845_72158286	71963983	A A	ATATGTAT others(15): Show ATATGTATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp2 HG01243.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0051 a0001c0001t0003g0050 a0001c0001t0001g0051 a0001c0001t0003g0050	2	187	0.0107	22	c.280 others(41): Show c.280+52619_280+52620insGTATATATATATATGTGTGTAT	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHSL2_chrX_71905845_72158286	71994298	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02886.hp1 HG02809.hp2 HG02886.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0057 a0001c0003t0012g0058 a0001c0003t0012g0057 a0001c0003t0012g0058	2	187	0.0107	22	c.280 others(41): Show c.280+82941_280+82962dupGTGTGTGTGTGTGTGTGTGTGT	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHS_chrX_17370200_17740994	17378059	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01071.hp1 HG01255.hp1 others(8): Show HG00738.hp1 HG01071.hp1 HG01255.hp1 HG01952.hp1 HG02071.hp1 HG02280.hp2 HG02602.hp1 HG03453.hp1 HG03516.hp2 NA18995.hp1 NA19085.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0003t0002 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0133 others(8): Show a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0002g0126 a0001c0001t0009g0125 a0001c0003t0002g0128 a0002c0002t0001g0130 a0002c0002t0001g0131 a0004c0004t0001g0132	11	164	0.0671	22	c.565 others(39): Show c.565+1743_565+1764dupTGTGTGTGTGTGTGTGTGTGTG	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHS_chrX_17370200_17740994	17425568	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0069 a0001c0001t0004g0069	1	164	0.0061	22	c.565 others(41): Show c.565+49249_565+49250insAAAAAAAAAAAAAAAAAAGAAA	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHS_chrX_17370200_17740994	17521366	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0100 a0005c0005t0003g0100	1	164	0.0061	22	c.565 others(43): Show c.565+145057_565+145058insTTTTTTTTTTTTTTTTTTTTTT	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHS_chrX_17370200_17740994	17541767	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18522.hp1 NA20752.hp1 HG01106.hp1 NA18522.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0015 a0003c0006 a0001c0001 a0002c0015 a0003c0006	a0001c0001t0001 a0002c0015t0001 a0003c0006t0001 a0001c0001t0001 a0002c0015t0001 a0003c0006t0001	a0001c0001t0001g0095 a0002c0015t0001g0046 a0003c0006t0001g0157 a0001c0001t0001g0095 a0002c0015t0001g0046 a0003c0006t0001g0157	3	164	0.0183	22	c.566 others(43): Show c.566-145948_566-145927dupACACACACACACACACACACAC	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHS_chrX_17370200_17740994	17572491	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	164	0.0061	22	c.566 others(43): Show c.566-115250_566-115229dupTTTTTTTTTTTTTTTTTTTTTT	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
NID2_chr14_51999809_52074059	52027633	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0019 a0002c0004t0001g0019	1	372	0.0027	22	c.253 others(39): Show c.2531-311_2531-290dupGTGTGTGTGTGTGTGTGTGTGT	NID2	ENSG00000087303.19	transcript	ENST00000216286.10	protein_coding	11/21			chr14	TogoVar
NID2_chr14_51999809_52074059	52030481	A A	AAAAGAAA others(15): Show AAAAGAAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19043.hp1 HG03540.hp1 NA19043.hp1	a0015 a0034 a0015 a0034	a0015c0058 a0034c0057 a0015c0058 a0034c0057	a0015c0058t0001 a0034c0057t0001 a0015c0058t0001 a0034c0057t0001	a0015c0058t0001g0333 a0034c0057t0001g0317 a0015c0058t0001g0333 a0034c0057t0001g0317	2	372	0.0054	22	c.225 others(39): Show c.2258-792_2258-791insCTTTCTTTCTTTTCTTTTCTTT	NID2	ENSG00000087303.19	transcript	ENST00000216286.10	protein_coding	9/21			chr14	TogoVar
NID2_chr14_51999809_52074059	52030585	A A	AGAACGAA others(15): Show AGAACGAACGAACGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0001 a0013c0017t0001	a0013c0017t0001g0185 a0013c0017t0001g0185	1	372	0.0027	22	c.225 others(39): Show c.2258-896_2258-895insCCTTCCTTCCGTTCGTTCGTTC	NID2	ENSG00000087303.19	transcript	ENST00000216286.10	protein_coding	9/21			chr14	TogoVar
NID2_chr14_51999809_52074059	52035856	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02280.hp2 HG02293.hp2 others(4): Show HG02080.hp2 HG02280.hp2 HG02293.hp2 NA18980.hp2 NA19067.hp2 NA19091.hp1 NA20300.hp2	a0002 a0004 a0002 a0004	a0002c0004 a0004c0020 a0002c0004 a0004c0020	a0002c0004t0001 a0004c0020t0001 a0002c0004t0001 a0004c0020t0001	a0002c0004t0001g0038 a0002c0004t0001g0102 a0002c0004t0001g0103 others(4): Show a0002c0004t0001g0038 a0002c0004t0001g0102 a0002c0004t0001g0103 a0002c0004t0001g0117 a0002c0004t0001g0129 a0002c0004t0001g0168 a0004c0020t0001g0338	7	372	0.0188	22	c.225 others(41): Show c.2257+2869_2257+2890dupTATATATATATATATATATATA	NID2	ENSG00000087303.19	transcript	ENST00000216286.10	protein_coding	9/21			chr14	TogoVar
NIM1K_chr5_43187225_43285850	43255754	A A	AAAAAAGA others(15): Show AAAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03453.hp1 HG03453.hp2 others(1): Show HG02965.hp1 HG03453.hp1 HG03453.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0023 a0001c0001t0001g0095 a0001c0001t0001g0151 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0095 a0001c0001t0001g0151 a0001c0002t0001g0241	4	292	0.0137	22	c.292 others(39): Show c.292+9690_292+9691insAAGAAAGAAAGAAAGAAAGAAA	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43278013	T T	TCTTTTCC others(15): Show TCTTTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0058 a0001c0004t0001g0058	1	292	0.0034	22	c.561 others(37): Show c.561+693_561+714dupTCCTTCCTTCCTTCCTTCCTTT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NINJ1_chr9_93116496_93139251	93134289	C C	CGCCCGCC others(15): Show CGCCCGCCCCCGGCCCGCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0112 a0001c0001t0010g0112	1	368	0.0027	22	c.-73 others(29): Show c.-73_-72insCGGGGGCGGGCCGGGGGCGGGC	NINJ1	ENSG00000131669.10	transcript	ENST00000375446.5	protein_coding		39		chr9	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19091.hp2 HG02451.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0348 a0001c0001t0001g0393 a0001c0001t0001g0348 a0001c0001t0001g0393	2	404	0.0050	22	c.33+ others(39): Show c.33+33431_33+33432insATATTTTTTTTTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02895.hp2 NA18990.hp2 others(1): Show HG01496.hp1 HG02895.hp2 NA18990.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0079 a0001c0001t0001g0387 a0001c0001t0002g0086 others(1): Show a0001c0001t0001g0079 a0001c0001t0001g0387 a0001c0001t0002g0086 a0001c0001t0003g0002	4	404	0.0099	22	c.33+ others(39): Show c.33+33431_33+33432insATATATTTTTTTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01934.hp2 HG02129.hp2 others(3): Show HG00741.hp2 HG01934.hp2 HG02129.hp2 NA18522.hp2 NA18947.hp1 NA18980.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0002c0004t0002 a0001c0001t0001 a0001c0001t0002 a0002c0004t0002	a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0278 others(3): Show a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0278 a0001c0001t0001g0390 a0001c0001t0002g0320 a0002c0004t0002g0100	6	404	0.0149	22	c.33+ others(39): Show c.33+33431_33+33432insATATATATTTTTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03239.hp2 HG03490.hp2 others(2): Show HG02071.hp2 HG03239.hp2 HG03490.hp2 NA18747.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0240 others(2): Show a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0240 a0001c0001t0001g0249 a0001c0001t0001g0273	5	404	0.0124	22	c.33+ others(39): Show c.33+33431_33+33432insATATATATATTTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0275 a0001c0001t0004g0275	1	404	0.0025	22	c.33+ others(39): Show c.33+33431_33+33432insATATATATATATATATTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	404	0.0025	22	c.33+ others(39): Show c.33+33431_33+33432insATATATATATATATATATTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	634265	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	404	0.0025	22	c.33+ others(39): Show c.33+29041_33+29062dupAAAAAAAAAAAAAAAAAAAAAA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	649531	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01109.hp1 HG01243.hp2 others(12): Show HG00423.hp2 HG01109.hp1 HG01243.hp2 HG02145.hp1 HG02622.hp2 HG03927.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18960.hp1 NA18968.hp2 NA18987.hp2 NA18994.hp2 NA19088.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0138 a0001c0001t0001g0171 a0001c0001t0001g0214 a0001c0001t0001g0271 a0001c0001t0001g0286 a0001c0001t0001g0294 a0001c0001t0001g0301 a0001c0001t0001g0311 a0001c0001t0001g0317 a0001c0001t0002g0137 a0001c0001t0002g0373	15	404	0.0371	22	c.33+ others(39): Show c.33+13775_33+13796dupTATATATATATATATATATATA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar

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