Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ADAMTS17_chr15_99966437_100346975	100162433	TATATACA others(114): Show TATATACACATATAGTTATATATATGCACATATACACATTATATGTGTAT ATATATGCACATATACACATTATATGTGTATATATATGCACATATACACA TTATATGTGTATATATATGCAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0193 a0001c0005t0005g0193	1	228	0.0044	-121	c.118 others(19): Show c.1182-7234_1182-7114del		ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	8/21						chr15	TogoVar
ADAP1_chr7_892900_959680	917061	AGGGGGGC others(114): Show AGGGGGGCGCAGTGCCAGCTCTACCGGGGAGGTGCACGGGAGGGGGGCGC AGTGCCAGCTCTACCGGGGAGTTGCACGGGAGGGGGGCGCAGTGCCAGCT CTACCGGGGAGGTGCACGGGAG	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	14	0.0714	-121	c.388 others(17): Show c.388+2786_388+2906del		ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10						chr7	TogoVar
ADARB2_chr10_1172313_1742525	1240133	CCCTCCCG others(114): Show CCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTG CCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTTACTCCCCTCTG	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0008 a0002c0015t0008	a0002c0015t0008g0060 a0002c0015t0008g0060	1	106	0.0094	-121	c.136 others(19): Show c.1361+1877_1361+1997del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1659736	CGCCTGCC others(114): Show CGCCTGCCTTCCCTCCTCTCCTCCAGTGTCCTGTGAGACTCCGGGGCAGG GGCTGTCTCCACCCTCTTCCTCCATTGCCTGCCCTGCCTGGGCGACCCAT CATGCTGCTTCTGGGTTCATCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(25): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00639.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02080.hp1 HG02080.hp2 HG02258.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02735.hp1 HG02965.hp2 HG03139.hp2 NA18945.hp1 NA18967.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18989.hp2 NA18995.hp1 NA18998.hp1 NA19043.hp2 NA19070.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0003c0006 a0004c0005 a0008c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0051 a0001c0001t0054 a0001c0001t0055 a0001c0001t0059 a0001c0003t0001 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0026 a0002c0002t0027 a0002c0002t0041 a0002c0002t0062 a0002c0002t0064 a0002c0002t0065 a0002c0004t0005 a0003c0006t0003 a0003c0006t0067 a0004c0005t0037 a0008c0008t0016	a0001c0001t0001g0045 a0001c0001t0003g0085 a0001c0001t0003g0098 others(25): Show a0001c0001t0001g0045 a0001c0001t0003g0085 a0001c0001t0003g0098 a0001c0001t0013g0007 a0001c0001t0015g0005 a0001c0001t0017g0030 a0001c0001t0051g0051 a0001c0001t0054g0083 a0001c0001t0055g0089 a0001c0001t0059g0092 a0001c0003t0001g0070 a0002c0002t0004g0082 a0002c0002t0004g0095 a0002c0002t0006g0011 a0002c0002t0007g0001 a0002c0002t0007g0002 a0002c0002t0007g0004 a0002c0002t0026g0032 a0002c0002t0027g0021 a0002c0002t0041g0074 a0002c0002t0062g0093 a0002c0002t0064g0100 a0002c0002t0065g0086 a0002c0004t0005g0029 a0003c0006t0003g0090 a0003c0006t0067g0080 a0004c0005t0037g0064 a0008c0008t0016g0003	28	106	0.2642	-121	c.100 others(19): Show c.100+77194_100+77314del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1659896	TCCGGGGC others(114): Show TCCGGGGCAGGGGCTGTCTCCACCCTCTTCCTCCATTGCCTGCCCTGCCT GGGCGACCCATCATGCTGCTTCTGGGTTCATCTGCCTGCCTTCCTTCCTC TCCTCCACTGTCCTGTGAGACC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0038 a0001c0001t0019g0038	1	106	0.0094	-121	c.100 others(19): Show c.100+77034_100+77154del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ANO9_chr11_412938_447011	436698	GGGGTAAG others(114): Show GGGGTAAGCAGGGGGTGAGCAGGGGGTGAGCTGGGGGTGAGCAGGGGGTG AGCAGGGGGTAAGCAGGGGGTGAGCAGGGGGTGAGCTGGGGGTGAGCTGG GGGTGAGCAGGAGGTGAGCAGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(88): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG01081.hp1 HG01099.hp1 HG01167.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01358.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp2 HG02895.hp2 HG02965.hp2 HG02976.hp1 HG03139.hp1 HG03139.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18941.hp1 NA18944.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18962.hp1 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA18997.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19043.hp2 NA19056.hp2 NA19079.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA20805.hp1	a0001 a0007 a0009 others(3): Show a0001 a0007 a0009 a0013 a0022 a0027	a0001c0001 a0001c0004 a0007c0006 others(4): Show a0001c0001 a0001c0004 a0007c0006 a0009c0009 a0013c0022 a0022c0028 a0027c0024	a0001c0001t0001 a0001c0001t0002 a0001c0004t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0006 a0007c0006t0001 a0009c0009t0001 a0013c0022t0001 a0022c0028t0001 a0027c0024t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0106 others(84): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0106 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0002g0007 a0001c0001t0002g0197 a0001c0001t0002g0223 a0001c0004t0003g0011 a0001c0004t0003g0013 a0001c0004t0003g0014 a0001c0004t0004g0141 a0001c0004t0006g0012 a0001c0004t0006g0015 a0007c0006t0001g0202 a0007c0006t0001g0218 a0007c0006t0001g0243 a0009c0009t0001g0180 a0009c0009t0001g0181 a0009c0009t0001g0210 a0013c0022t0001g0177 a0022c0028t0001g0266 a0027c0024t0001g0269	91	286	0.3182	-121	c.7-2 others(13): Show c.7-2721_7-2601del		ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	1/22						chr11	TogoVar
ANXA2_chr15_60342151_60402986	60366819	GGCCAGCC others(114): Show GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGACCCCTCT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02818.hp2 others(2): Show HG02109.hp1 HG02280.hp1 HG02818.hp2 NA18612.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0180 a0001c0001t0001g0209 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0180 a0001c0001t0001g0209 a0001c0001t0001g0247 a0001c0001t0001g0297	5	334	0.0150	-121	c.149 others(17): Show c.149-2417_149-2297del		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12						chr15	TogoVar
AP3D1_chr19_2095988_2156566	2128862	GCCCCCGC others(114): Show GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCG CTCCAACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACT GCACCCCGTGGAGCCGGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01952.hp1 HG01975.hp2 others(10): Show HG01934.hp2 HG01952.hp1 HG01975.hp2 HG02273.hp1 HG02895.hp2 HG03139.hp1 HG03490.hp1 HG03492.hp1 NA18945.hp1 NA18955.hp1 NA18963.hp1 NA19067.hp2 NA19068.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0005c0023 a0007c0015	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0005 a0001c0005t0002 a0005c0023t0001 a0007c0015t0001	a0001c0001t0001g0134 a0001c0001t0001g0154 a0001c0001t0001g0156 others(9): Show a0001c0001t0001g0134 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0003g0005 a0001c0001t0003g0355 a0001c0001t0003g0360 a0001c0002t0001g0306 a0001c0003t0005g0207 a0001c0005t0002g0018 a0001c0005t0002g0020 a0005c0023t0001g0100 a0007c0015t0001g0138	13	406	0.0320	-121	c.806 others(15): Show c.806+107_806+227del		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31						chr19	TogoVar
ARHGAP5_chr14_32072304_32164728	32138155	TTTTTCTT others(114): Show TTTTTCTTGATTTCATCTTCAGATTGCTCATTGCTGGAGTATAAAAATAC AACTAACTTTTATGTGTTGATCTTGTAACCTGCAACTTTGCTGAATTTTG TATTAACTTCTACTAGTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	186	0.0054	-121	c.386 others(19): Show c.3866-8104_3866-7984del		ARHGAP5	ENSG00000100852.14	transcript	ENST00000345122.8	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr14	TogoVar
ATP9B_chr18_79064394_79383283	79246121	CGGAGGGC others(114): Show CGGAGGGCACCGCCCTACTGTCTGTGCGGAGGGCACCGCCCTACTGACTG AGGAGGGCACCGCCCTACTGACTGTGCGGAGGGCACCACCCTACTGACTG AGGAGGGCACCACCCTGACTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(144): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00544.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0006 a0011 a0013 a0015 a0016	a0001c0001 a0001c0003 a0001c0004 others(21): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0025 a0001c0026 a0001c0038 a0002c0002 a0002c0005 a0002c0018 a0002c0032 a0005c0009 a0005c0016 a0006c0012 a0011c0030 a0013c0022 a0015c0028 a0016c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0003t0001 a0001c0003t0003 a0001c0003t0011 a0001c0003t0013 a0001c0004t0001 a0001c0004t0003 a0001c0006t0003 a0001c0010t0001 a0001c0010t0004 a0001c0011t0006 a0001c0013t0004 a0001c0014t0006 a0001c0015t0001 a0001c0017t0004 a0001c0025t0001 a0001c0026t0001 a0001c0038t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0014 a0002c0005t0001 a0002c0018t0002 a0002c0032t0005 a0005c0009t0005 a0005c0016t0001 a0006c0012t0003 a0011c0030t0001 a0013c0022t0004 a0015c0028t0012 a0016c0027t0003	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(144): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0116 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0002g0079 a0001c0001t0003g0072 a0001c0001t0008g0055 a0001c0001t0008g0057 a0001c0001t0010g0005 a0001c0001t0010g0050 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0003g0112 a0001c0003t0003g0115 a0001c0003t0003g0121 a0001c0003t0003g0122 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0127 a0001c0003t0003g0128 a0001c0003t0003g0129 a0001c0003t0003g0131 a0001c0003t0003g0133 a0001c0003t0003g0138 a0001c0003t0003g0142 a0001c0003t0003g0143 a0001c0003t0003g0145 a0001c0003t0003g0146 a0001c0003t0003g0147 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0153 a0001c0003t0011g0134 a0001c0003t0013g0148 a0001c0004t0001g0016 a0001c0004t0003g0034 a0001c0004t0003g0056 a0001c0004t0003g0060 a0001c0004t0003g0061 a0001c0004t0003g0073 a0001c0004t0003g0110 a0001c0004t0003g0120 a0001c0006t0003g0267 a0001c0006t0003g0268 a0001c0010t0001g0296 a0001c0010t0004g0277 a0001c0011t0006g0106 a0001c0011t0006g0107 a0001c0013t0004g0108 a0001c0013t0004g0111 a0001c0014t0006g0017 a0001c0015t0001g0130 a0001c0015t0001g0132 a0001c0017t0004g0099 a0001c0025t0001g0074 a0001c0026t0001g0038 a0001c0038t0001g0265 a0002c0002t0003g0198 a0002c0002t0004g0253 a0002c0002t0009g0177 a0002c0002t0009g0255 a0002c0002t0014g0187 a0002c0005t0001g0178 a0002c0005t0001g0193 a0002c0005t0001g0202 a0002c0005t0001g0242 a0002c0018t0002g0114 a0002c0032t0005g0195 a0005c0009t0005g0165 a0005c0009t0005g0166 a0005c0009t0005g0167 a0005c0009t0005g0168 a0005c0009t0005g0170 a0005c0016t0001g0169 a0005c0016t0001g0171 a0006c0012t0003g0203 a0006c0012t0003g0221 a0006c0012t0003g0222 a0011c0030t0001g0254 a0013c0022t0004g0276 a0015c0028t0012g0144 a0016c0027t0003g0139	147	298	0.4933	-121	c.110 others(19): Show c.1108-7258_1108-7138del		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	82964519	TGGGGACA others(114): Show TGGGGACACGGACGCCTGCAGGTGCACCCCCACGGGGGGACGGGGACACG GACGCCTGCAGGTGCACCCCACGGGGAGGACGGAGACATGGATGCCTGCA GGTGCACCCCCACGGGGAGGAC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0007 a0002c0010t0007	a0002c0010t0007g0222 a0002c0010t0007g0222	1	266	0.0038	-121	c.555 others(17): Show c.555+1011_555+1131del		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	7/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83038873	AATATTAA others(114): Show AATATTAAAAGATGTTTATAGTAGTTTCAAAAACCAATTTGTTTACACAC ATTACAGAAGCAAGTTGAAACAGATGTTCTACAATAATCAATTTATAAAG AGTTTTCTATTTCAAACCAACG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0047 a0001c0006t0006g0047	1	266	0.0038	-121	c.233 others(17): Show c.233-3895_233-3775del		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	3/12						chr17	TogoVar
BMP8B_chr1_39752182_39793865	39784524	TCCCTGAG others(114): Show TCCCTGAGGGCAGGGACTTTACTTCTCTCATTGTTATATCCCCAGCAACT AGAACTCTGCCTGGTCCGTGGTAGGTGCTACAGAACTATTTGCTGAATGA ATGAATGGGAAAATGAAAGAGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(114): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01257.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01975.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02300.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03139.hp2 HG03239.hp1 HG03516.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG04115.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18943.hp2 NA18944.hp2 NA18949.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18963.hp1 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19010.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19240.hp2	a0001 a0003 a0006 others(7): Show a0001 a0003 a0006 a0007 a0010 a0015 a0019 a0020 a0021 a0022	a0001c0002 a0001c0005 a0003c0004 others(8): Show a0001c0002 a0001c0005 a0003c0004 a0006c0009 a0007c0010 a0010c0017 a0015c0034 a0019c0018 a0020c0021 a0021c0022 a0022c0037	a0001c0002t0002 a0001c0002t0015 a0001c0002t0031 others(13): Show a0001c0002t0002 a0001c0002t0015 a0001c0002t0031 a0001c0002t0032 a0001c0005t0002 a0001c0005t0003 a0003c0004t0007 a0006c0009t0007 a0006c0009t0029 a0007c0010t0003 a0010c0017t0002 a0015c0034t0003 a0019c0018t0003 a0020c0021t0002 a0021c0022t0030 a0022c0037t0002	a0001c0002t0002g0002 a0001c0002t0002g0012 a0001c0002t0002g0038 others(66): Show a0001c0002t0002g0002 a0001c0002t0002g0012 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0159 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0169 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0015g0041 a0001c0002t0031g0160 a0001c0002t0032g0150 a0001c0005t0002g0146 a0001c0005t0003g0011 a0001c0005t0003g0017 a0001c0005t0003g0126 a0001c0005t0003g0134 a0001c0005t0003g0135 a0001c0005t0003g0136 a0001c0005t0003g0137 a0001c0005t0003g0138 a0001c0005t0003g0139 a0001c0005t0003g0140 a0001c0005t0003g0175 a0001c0005t0003g0177 a0003c0004t0007g0013 a0003c0004t0007g0127 a0003c0004t0007g0128 a0003c0004t0007g0145 a0003c0004t0007g0147 a0003c0004t0007g0158 a0003c0004t0007g0164 a0003c0004t0007g0168 a0003c0004t0007g0170 a0003c0004t0007g0178 a0006c0009t0007g0014 a0006c0009t0007g0040 a0006c0009t0007g0141 a0006c0009t0007g0156 a0006c0009t0029g0122 a0007c0010t0003g0005 a0007c0010t0003g0176 a0010c0017t0002g0123 a0015c0034t0003g0174 a0019c0018t0003g0124 a0020c0021t0002g0125 a0021c0022t0030g0157 a0022c0037t0002g0179	117	430	0.2721	-121	c.334 others(17): Show c.334+3507_334+3627del		BMP8B	ENSG00000116985.12	transcript	ENST00000372827.8	protein_coding	1/6						chr1	TogoVar
BTBD9_chr6_38163451_38644929	38166051	CCACCCGC others(114): Show CCACCCGCACAGCAGAGCCCTCCACCTCCCCCCACCCGCACAGCAGAGCC CTCCACCTCCCCCCACCCGCACAGCAGAGCCCTCCACCTCCCCCAGCACA GCAGAACCCTCCACCTCCCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0154 a0001c0001t0076g0154	1	224	0.0045	-121	c.88 others(11): Show c.8813_*8933del		BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding					2399		chr6	TogoVar
CAMKK1_chr17_3855315_3898053	3867988	CACCGTCT others(114): Show CACCGTCTAACTGATACGCGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAA CTGATACACAGGATCTGGGGGAGAAGCAGGCGCAGTCTAACTGATACGTG GGCTCTGGGGGAGAAGCAGGCG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0046 a0001c0003t0002g0046	1	446	0.0022	-121	c.134 others(19): Show c.1341+1378_1341+1498del		CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15						chr17	TogoVar
CCDC63_chr12_110841987_110912535	110867166	GGCGGGGG others(114): Show GGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03195.hp2 HG01081.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0172 a0001c0001t0001g0091 a0001c0001t0001g0172	2	288	0.0069	-121	c.370 others(17): Show c.370-6674_370-6554del		CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC73_chr11_32597721_32799662	32741165	CTATAAGT others(114): Show CTATAAGTACCTATTAGGTTCACTTGGTCTACAGTACAGATTAAGTCCAG TGTCTCTTTGTTGACTTTCTGTCTGGATGATCTGTCCAATGTTGAAAGTG GAGTGTTGAAGTCTCCAACTAT	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18953.hp1 NA18967.hp1 others(3): Show NA18944.hp1 NA18953.hp1 NA18967.hp1 NA18980.hp1 NA18986.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 others(3): Show a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0298 a0001c0001t0001g0302	6	312	0.0192	-121	c.135 others(19): Show c.135+18823_135+18943del		CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17						chr11	TogoVar
CELSR1_chr22_46356174_46542620	46364570	GTCCGGGG others(114): Show GTCCGGGGGGTACTCTCCACGGTGACTGCCCTGCTCCTCGCGGTGCAGCT CCACGCTGACCTTGGTCTCCACCTTCAGGCGGGGCTTGCCGCTGGGGTCC TCACTGTCACTCTCAGCCAGGC	G G	frameshift_variant frameshift_variant	HIGH	NA20300.hp1 NA20300.hp1	a0051 a0051	a0051c0037 a0051c0037	a0051c0037t0008 a0051c0037t0008	a0051c0037t0008g0026 a0051c0037t0008g0026	1	104	0.0096	-121	c.860 others(9): Show c.8600_8720del	p.Ser others(6): Show p.Ser2867fs	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	33/35	9170/11559	8600/9060	2867/3019			chr22	TogoVar
CENPVL3_chrX_51612020_51623912	51621569	CTTCTTCT others(114): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01358.hp1 HG01934.hp1 others(3): Show HG00609.hp1 HG01358.hp1 HG01934.hp1 HG02723.hp2 HG03486.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	298	0.0201	-121	c.-28 others(11): Show c.-2817_-2697del		CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding					2658		chrX	TogoVar
CFAP53_chr18_50222193_50271495	50238649	CATTTATG others(114): Show CATTTATGTGTTTCTGTTCCATAGCACGTTCTTCCTGTTCTTTAGCTTCT CGTTGCACTAAGAAAAGCAAAAGTAATTATATGTCAAATGACTTTCAGAC AAGAATTGCCAACATCTTTCTG	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19059.hp2 NA19059.hp2	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0001 a0013c0015t0001	a0013c0015t0001g0112 a0013c0015t0001g0112	1	402	0.0025	-121	c.121 others(12): Show c.1214-65_1269del	p.Leu others(5): Show p.Leu405fs	CFAP53	ENSG00000172361.6	transcript	ENST00000398545.5	protein_coding	7/8	1360/1824	1214/1545	405/514			chr18	TogoVar
CLIC4_chr1_24740447_24849321	24799905	ACCCCGTC others(114): Show ACCCCGTCCGGGGGGGGGGGTCAGCCCCCCCACCTGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA20300.hp1 HG02257.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0276 a0001c0001t0001g0277	2	344	0.0058	-121	c.182 others(17): Show c.182+2066_182+2186del		CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC4_chr1_24740447_24849321	24800188	CCCGCCCG others(114): Show CCCGCCCGGCCAGCCACCCCGTCCGGGGGGGGGGGTCAGCCCCCCCACCT GGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA20300.hp1 HG02257.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0276 a0001c0001t0001g0277	2	344	0.0058	-121	c.182 others(17): Show c.182+2339_182+2459del		CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CLN8_chr8_1758789_1791570	1763523	GCCCCCCG others(114): Show GCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCC CGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCGCCGCG CCCCGCCCCCCGCCGCGCCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18959.hp1 NA18963.hp2 others(1): Show NA18949.hp1 NA18959.hp1 NA18963.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0011 a0001c0001t0001g0079 a0001c0001t0001g0122 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0079 a0001c0001t0001g0122 a0001c0001t0003g0011	4	413	0.0097	-121	c.-48 others(9): Show c.-485_-365del		CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding					265		chr8	TogoVar
CNTN1_chr12_40687439_41077415	41056898	AGATATTT others(114): Show AGATATTTATAAATATTTATAATATTTAGATATTTATAAATATTTATAAT ATTTAGATATTTATAAATATTATAAATATTTAGATATTTATAAATATTAT AAATATTTAGATATTTATAAAT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	230	0.0044	-121	c.298 others(21): Show c.2981-13044_2981-12924del		CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	23/23					INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	41056917	TAATATTT others(114): Show TAATATTTAGATATTTATAAATATTTATAATATTTAGATATTTATAAATA TTATAAATATTTAGATATTTATAAATATTATAAATATTTAGATATTTATA AATGATATTTATAAATATTATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp2 HG01255.hp1 others(6): Show HG00099.hp1 HG01069.hp2 HG01255.hp1 HG02083.hp2 HG02273.hp1 HG03704.hp2 NA18952.hp2 NA19065.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0006 a0001c0006t0006 a0001c0001t0006 a0001c0006t0006	a0001c0001t0006g0138 a0001c0001t0006g0139 a0001c0001t0006g0140 others(6): Show a0001c0001t0006g0138 a0001c0001t0006g0139 a0001c0001t0006g0140 a0001c0006t0006g0015 a0001c0006t0006g0017 a0001c0006t0006g0018 a0001c0006t0006g0021 a0001c0006t0006g0051 a0001c0006t0006g0119	9	230	0.0391	-121	c.298 others(21): Show c.2981-13017_2981-12897del		CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	23/23					INFO_REALIGN_3_PRIME	chr12	TogoVar
CORO2A_chr9_98115975_98197637	98172262	TCCCACAC others(114): Show TCCCACACCCCACTTCTGAGCTCGACCCCACGCCCCACTTCCGAGCTCAG CCCCACACCCCACTTCCAAGCTCAGCCCCACACCCCACTTCTGAGACCCC ACACCCCACTTCCAAGCTCAGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp1 HG02615.hp1 others(1): Show HG01243.hp1 HG02486.hp1 HG02615.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009	a0001c0001t0002g0135 a0001c0001t0003g0132 a0001c0001t0003g0133 others(1): Show a0001c0001t0002g0135 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0009g0270	4	342	0.0117	-121	c.1-1 others(15): Show c.1-14723_1-14603del		CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	1/11						chr9	TogoVar
CROCC2_chr2_240901336_240998311	240923819	CCCCCACA others(114): Show CCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACC CAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAAC CCAGCCCCCACACTAACCCAGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp2 HG02922.hp1 others(1): Show HG01884.hp2 HG02630.hp2 HG02922.hp1 NA18906.hp2	a0018 a0031 a0018 a0031	a0018c0017 a0031c0076 a0018c0017 a0031c0076	a0018c0017t0002 a0031c0076t0002 a0018c0017t0002 a0031c0076t0002	a0018c0017t0002g0240 a0018c0017t0002g0241 a0018c0017t0002g0242 others(1): Show a0018c0017t0002g0240 a0018c0017t0002g0241 a0018c0017t0002g0242 a0031c0076t0002g0239	4	350	0.0114	-121	c.488 others(17): Show c.488+1189_488+1309del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240984801	ACACACAC others(114): Show ACACACACACCCAGGCACTCAATCCACACACACACCCAGGCACTCCACAC ACACACACCCAGGCACTCACTCCACACACACCCAGGCACTCACTCCACAC ACACACACCCAGGCACTCACTC	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0100 a0002c0001t0001g0100	1	350	0.0029	-121	c.455 others(19): Show c.4551+1782_4551+1902del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CSF2RA_chrX_1263814_1314935	1267842	GACATGCA others(114): Show GACATGCATGTGTGTGCAGGTGTGTGCGCAGATGTGTGTGTAGTTGTGTG TATGCACATGTGCATTGTGTGCAGGTGTGTGGGGATGTGTGTGCAGGTCT GTGTGTGCAGATGTGTGTGCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	159	0.0063	-121	c.-11 others(11): Show c.-1127_-1007del		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding					971		chrX	TogoVar
CTDP1_chr18_79674803_79759503	79732396	CGAGACAT others(114): Show CGAGACATGAGAACTCAGGAGTGCTCCCAAAATCACGTGAGACATGAGAA CTCACATCAGGAGTGCTCCCAAAATCACGTGAGACATGAGAACTCACATC AGGAGTGCTCCCAAAATCACGT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp2 HG01081.hp2 HG02055.hp2	a0001 a0002 a0001 a0002	a0001c0032 a0002c0006 a0001c0032 a0002c0006	a0001c0032t0001 a0002c0006t0001 a0001c0032t0001 a0002c0006t0001	a0001c0032t0001g0202 a0002c0006t0001g0221 a0001c0032t0001g0202 a0002c0006t0001g0221	2	378	0.0053	-121	c.258 others(19): Show c.2580+3344_2580+3464del		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
DAGLB_chr7_6404129_6452954	6421309	AGGCAGCG others(114): Show AGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAG GCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCG GGAGGCGCAGGCAGCGCGGGAG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0170 a0001c0002t0002g0170	1	380	0.0026	-121	c.121 others(17): Show c.1218+297_1218+417del		DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14						chr7	TogoVar
DBNDD1_chr16_89999871_90024456	90008178	CCCACACC others(114): Show CCCACACCTCCCAGGATGTCCCAAGGGGCCTCACCCCCCAAACACACCTC CCAGGACTTCCCAAGGGGCCTCAGCCCACCACCCACACCTCCCAGGACGT CCCAAGGGGCCTCACCCCCCAA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19030.hp2 HG03209.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0080 a0001c0001t0008g0127 a0001c0001t0001g0080 a0001c0001t0008g0127	2	412	0.0049	-121	c.319 others(15): Show c.319+485_319+605del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3						chr16	TogoVar
DHRS12_chr13_51762993_51809163	51774375	ATGTATTC others(114): Show ATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACAG TATTCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTATT CTCCTACAGTATTCTCCTACAT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01978.hp2 HG03130.hp1 others(2): Show HG01934.hp1 HG01978.hp2 HG03130.hp1 HG03195.hp1 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0074 a0002c0002t0003g0157 a0002c0002t0003g0246 others(2): Show a0002c0002t0003g0074 a0002c0002t0003g0157 a0002c0002t0003g0246 a0002c0002t0003g0251 a0002c0002t0003g0324	5	420	0.0119	-121	c.364 others(15): Show c.364-462_364-342del		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DLC1_chr8_13078361_13519851	13453421	TATGTGTA others(114): Show TATGTGTATATATATATGTATATATATACATATATATATGTATATATATA CATATATATGTATATATATACATATATATATGTATATATATATACATATA TATATATGTATATATATACATA	T T	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0066 a0004c0005t0002g0066	1	212	0.0047	-121	c.102 others(21): Show c.1023+45507_1023+45627del		DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17						chr8	TogoVar
DLC1_chr8_13078361_13519851	13453423	TGTGTATA others(114): Show TGTGTATATATATATGTATATATATACATATATATATGTATATATATACA TATATATGTATATATATACATATATATATGTATATATATATACATATATA TATATGTATATATATACATATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02074.hp2 HG03491.hp2 others(1): Show HG00558.hp2 HG02074.hp2 HG03491.hp2 HG03492.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0002 a0001c0001t0001 a0004c0005t0002	a0001c0001t0001g0110 a0001c0001t0001g0111 a0004c0005t0002g0172 others(1): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0004c0005t0002g0172 a0004c0005t0002g0181	4	212	0.0189	-121	c.102 others(21): Show c.1023+45505_1023+45625del		DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17						chr8	TogoVar
DLC1_chr8_13078361_13519851	13453425	TGTATATA others(114): Show TGTATATATATATGTATATATATACATATATATATGTATATATATACATA TATATGTATATATATACATATATATATGTATATATATATACATATATATA TATGTATATATATACATATATA	T T	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02300.hp2 NA18986.hp1 HG02293.hp1 HG02300.hp2 NA18986.hp1	a0004 a0004	a0004c0005 a0004c0046 a0004c0005 a0004c0046	a0004c0005t0002 a0004c0005t0033 a0004c0046t0048 a0004c0005t0002 a0004c0005t0033 a0004c0046t0048	a0004c0005t0002g0177 a0004c0005t0033g0184 a0004c0046t0048g0183 a0004c0005t0002g0177 a0004c0005t0033g0184 a0004c0046t0048g0183	3	212	0.0142	-121	c.102 others(21): Show c.1023+45503_1023+45623del		DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17						chr8	TogoVar
DMXL2_chr15_51442791_51627771	51625566	AATAAAGC others(114): Show AATAAAGCTATCTAAAAAAGAAATAGCCAGGGATACAGTCATCTGAAGTC TTGACTGAAGTTAAAGGCCCTGCTTCCAAGATGGCAGGCTCTCATGGCTA GCAAGTTGAGCCTAATAGATAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0065 a0001c0001t0001g0066	2	346	0.0058	-121	c.-31 others(11): Show c.-3142_-3022del		DMXL2	ENSG00000104093.14	transcript	ENST00000560891.6	protein_coding					2796		chr15	TogoVar
DNAH11_chr7_21538039_21906839	21548088	ACCCAACC others(114): Show ACCCAACCCATTAATGGGTTATTAATTTCAGCATTTTTTGCTAGTTTGTT GGCTAGGGTTGTTCTTGTAAAGCTTTTGTGATGGTGCCATCTGGGGCGGT ATTCTTGGGAATGACAACACTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(61): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG01074.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02129.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02486.hp1 HG02683.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03579.hp2 HG03831.hp1 HG04115.hp1 HG04184.hp1 NA18522.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18959.hp2 NA18961.hp2 NA18963.hp2 NA18977.hp1 NA18985.hp1 NA19002.hp2 NA19004.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19074.hp2 NA19077.hp1 NA19084.hp1 NA20905.hp1 NA21309.hp2	a0007 a0015 a0019 others(53): Show a0007 a0015 a0019 a0026 a0029 a0031 a0032 a0036 a0041 a0044 a0045 a0046 a0048 a0051 a0053 a0058 a0070 a0071 a0074 a0080 a0083 a0093 a0094 a0095 a0099 a0106 a0109 a0115 a0126 a0132 a0133 a0134 a0135 a0138 a0140 a0144 a0149 a0156 a0157 a0158 a0160 a0166 a0173 a0178 a0180 a0181 a0183 a0188 a0192 a0193 a0205 a0213 a0214 a0215 a0218 a0226	a0007c0211 a0015c0119 a0015c0122 others(58): Show a0007c0211 a0015c0119 a0015c0122 a0015c0123 a0019c0225 a0019c0227 a0026c0018 a0029c0017 a0031c0230 a0031c0238 a0032c0100 a0036c0008 a0041c0223 a0041c0224 a0044c0107 a0045c0235 a0046c0128 a0048c0234 a0051c0116 a0053c0149 a0058c0220 a0070c0237 a0071c0239 a0074c0216 a0080c0228 a0083c0229 a0093c0117 a0094c0028 a0095c0118 a0099c0027 a0106c0221 a0109c0125 a0115c0126 a0126c0233 a0132c0046 a0133c0075 a0134c0120 a0135c0222 a0138c0259 a0140c0184 a0144c0033 a0149c0261 a0156c0183 a0157c0124 a0158c0045 a0160c0232 a0166c0181 a0173c0129 a0178c0032 a0180c0226 a0181c0130 a0183c0250 a0188c0231 a0192c0127 a0193c0121 a0205c0074 a0213c0180 a0214c0171 a0215c0059 a0218c0026 a0226c0236	a0007c0211t0001 a0015c0119t0002 a0015c0122t0004 others(58): Show a0007c0211t0001 a0015c0119t0002 a0015c0122t0004 a0015c0123t0002 a0019c0225t0001 a0019c0227t0001 a0026c0018t0003 a0029c0017t0001 a0031c0230t0005 a0031c0238t0005 a0032c0100t0004 a0036c0008t0001 a0041c0223t0002 a0041c0224t0002 a0044c0107t0004 a0045c0235t0005 a0046c0128t0002 a0048c0234t0002 a0051c0116t0003 a0053c0149t0002 a0058c0220t0001 a0070c0237t0002 a0071c0239t0003 a0074c0216t0003 a0080c0228t0003 a0083c0229t0003 a0093c0117t0001 a0094c0028t0019 a0095c0118t0005 a0099c0027t0001 a0106c0221t0001 a0109c0125t0002 a0115c0126t0003 a0126c0233t0003 a0132c0046t0001 a0133c0075t0004 a0134c0120t0001 a0135c0222t0001 a0138c0259t0007 a0140c0184t0001 a0144c0033t0001 a0149c0261t0016 a0156c0183t0001 a0157c0124t0004 a0158c0045t0025 a0160c0232t0005 a0166c0181t0008 a0173c0129t0002 a0178c0032t0001 a0180c0226t0002 a0181c0130t0004 a0183c0250t0002 a0188c0231t0010 a0192c0127t0002 a0193c0121t0002 a0205c0074t0001 a0213c0180t0001 a0214c0171t0008 a0215c0059t0001 a0218c0026t0001 a0226c0236t0001	a0007c0211t0001g0209 a0015c0119t0002g0070 a0015c0122t0004g0071 others(61): Show a0007c0211t0001g0209 a0015c0119t0002g0070 a0015c0122t0004g0071 a0015c0123t0002g0103 a0019c0225t0001g0218 a0019c0227t0001g0136 a0026c0018t0003g0156 a0026c0018t0003g0190 a0029c0017t0001g0128 a0029c0017t0001g0157 a0031c0230t0005g0207 a0031c0238t0005g0201 a0032c0100t0004g0080 a0036c0008t0001g0021 a0036c0008t0001g0043 a0041c0223t0002g0181 a0041c0224t0002g0178 a0044c0107t0004g0068 a0045c0235t0005g0212 a0046c0128t0002g0074 a0048c0234t0002g0205 a0051c0116t0003g0075 a0053c0149t0002g0295 a0058c0220t0001g0223 a0070c0237t0002g0213 a0071c0239t0003g0193 a0074c0216t0003g0202 a0080c0228t0003g0135 a0083c0229t0003g0191 a0093c0117t0001g0045 a0094c0028t0019g0072 a0095c0118t0005g0107 a0099c0027t0001g0041 a0106c0221t0001g0200 a0109c0125t0002g0042 a0115c0126t0003g0086 a0126c0233t0003g0208 a0132c0046t0001g0114 a0133c0075t0004g0084 a0134c0120t0001g0085 a0135c0222t0001g0233 a0138c0259t0007g0228 a0140c0184t0001g0224 a0144c0033t0001g0004 a0149c0261t0016g0226 a0156c0183t0001g0225 a0157c0124t0004g0236 a0158c0045t0025g0120 a0160c0232t0005g0192 a0166c0181t0008g0044 a0173c0129t0002g0017 a0178c0032t0001g0244 a0180c0226t0002g0204 a0181c0130t0004g0108 a0183c0250t0002g0217 a0188c0231t0010g0203 a0192c0127t0002g0040 a0193c0121t0002g0076 a0205c0074t0001g0069 a0213c0180t0001g0003 a0214c0171t0008g0087 a0215c0059t0001g0005 a0218c0026t0001g0073 a0226c0236t0001g0206	64	298	0.2148	-121	c.495 others(17): Show c.495+2944_495+3064del		DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	2/81					INFO_REALIGN_3_PRIME	chr7	TogoVar
DOK7_chr4_3458306_3499482	3490111	CATTCATT others(114): Show CATTCATTCCTTTTCTCCCTGCTCATTCATTCCTTCCTTCCCCACCCTGC TCATTCATTTCTTCCTCCGCCCCCCCCACTCATTCCTTCCCCCCTCATTC ATTCCTGTCTTCACCCCCTCAT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0110 a0003c0003t0004g0110	1	404	0.0025	-121	c.772 others(15): Show c.772+316_772+436del		DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6						chr4	TogoVar
DPEP2NB_chr16_68008436_68020911	68020697	GTGCCACC others(114): Show GTGCCACCACGCCGGGTTGATTTTTGTAATTTTTTTTTGTGTATATATAT ATATACACATATATATATACACGTATATATATATACACGTATATATATAT ATACATATATATATATACGTAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	362	0.0028	-121	c.-50 others(11): Show c.-5048_-4928del		DPEP2NB	ENSG00000263201.1	transcript	ENST00000574912.1	protein_coding					4787		chr16	TogoVar
DUXA_chr19_57149021_57172485	57172024	CCGCGAGG others(114): Show CCGCGAGGGGGCGGGGCGTGCGAGGGGGCGGGGGCGTGCGAGGGGGCGGG GGCGCGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGGGCG GGGCGCGCGAGGGGGCGGGGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0371 a0001c0001t0001g0371	1	446	0.0022	-121	c.-47 others(11): Show c.-4702_-4582del		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding					4540		chr19	TogoVar
DYNLL2_chr17_58078419_58100542	58096841	GATCTCTC others(114): Show GATCTCTCGTATTCCAGACATAACTTTTCTTCCTTTCATTGTTTAGTAGC AGCCTAATTTCCCTTTGGTAGTCAGGAGGAATCACCCTAGCCAGTGGAGT AATTCTTCATTGCAAAATGACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	306	0.0033	-121	c.75 others(11): Show c.7563_*7683del		DYNLL2	ENSG00000264364.3	transcript	ENST00000579991.3	protein_coding					1300		chr17	TogoVar
EHD1_chr11_64846642_64883621	64855906	TCACACAC others(114): Show TCACACACCCTCCGCTCAACCCTCACCACGCATCACACACCCTCCGCTCA ACCCTCACCACGCATCACACACCCTCCGCTCAACCCTCACCACGCATCAC ACACCCTCCGCTCAACCCTCAC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0045 a0001c0017t0045	a0001c0017t0045g0162 a0001c0017t0045g0162	1	354	0.0028	-121	c.916 others(15): Show c.916-541_916-421del		EHD1	ENSG00000110047.18	transcript	ENST00000320631.8	protein_coding	3/4						chr11	TogoVar
ENOSF1_chr18_665318_717630	666920	GAGATGGT others(114): Show GAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGT GATGGAGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGA TGGAGATGGTGATGGAGATGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01123.hp1 HG00323.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0067 a0001c0001t0019g0161 a0001c0001t0019g0067 a0001c0001t0019g0161	2	418	0.0048	-121	c.72 others(11): Show c.7264_*7384del		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3397		chr18	TogoVar
ERFL_chr19_41902704_41933449	41914740	TCTGTCTC others(114): Show TCTGTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCCCCTTCCAC CGTCTCTGTCTCTCCCTCCCCCTCCACCGTGTCTCCCCCCCTTTCCACCG TCTCTGTCTCTCCCCCCCTCCA	T T	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0160 a0001c0002t0002g0160	1	330	0.0030	-121	c.-13 others(17): Show c.-13-1929_-13-1809del		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERFL_chr19_41902704_41933449	41914743	GTCTCTCC others(114): Show GTCTCTCCCTCCCCTTCCACCGTCTCTGTCTCTCCCTCCCCTTCCACCGT CTCTGTCTCTCCCTCCCCCTCCACCGTGTCTCCCCCCCTTTCCACCGTCT CTGTCTCTCCCCCCCTCCACCA	G G	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	330	0.0030	-121	c.-13 others(17): Show c.-13-1932_-13-1812del		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ESPNL_chr2_238095340_238138287	238118386	AAGGGTGG others(114): Show AAGGGTGGATGGAAGAGGGTGGACGGAGGAGGGTGGATGGAGGAGGAATG GATGGAAGAGGTGGATGGAGGAGAGTGAATGGAGGAGGTGGATGGAAAAG AGTGGATGGTGGGAGATGGAGG	A A	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18962.hp2 NA18980.hp2 NA18944.hp2 NA18962.hp2 NA18980.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0004 a0001c0005 a0002c0004	a0001c0005t0006 a0002c0004t0002 a0001c0005t0006 a0002c0004t0002	a0001c0005t0006g0093 a0002c0004t0002g0103 a0002c0004t0002g0109 a0001c0005t0006g0093 a0002c0004t0002g0103 a0002c0004t0002g0109	3	408	0.0074	-121	c.987 others(17): Show c.987+1365_987+1485del		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
FCRL4_chr1_157568747_157603085	157600784	GCTACATT others(114): Show GCTACATTACTATTAATTACAGGCTTTATCCAGCTTTTTTCAGTTTTTCC ATTGATACCTTTTTCCTCTTCTAGTATCCCTTCTAAGATACTACATTACA TTTAGTTATCTTTGCTCCGTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(201): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03195.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp2 NA19066.hp2 NA19072.hp2 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0011 a0012 a0013 a0014	a0001c0001 a0001c0002 a0001c0006 others(12): Show a0001c0001 a0001c0002 a0001c0006 a0001c0019 a0002c0003 a0003c0004 a0004c0005 a0005c0008 a0007c0016 a0008c0017 a0009c0015 a0011c0011 a0012c0018 a0013c0014 a0014c0020	a0001c0001t0005 a0001c0001t0009 a0001c0002t0001 others(25): Show a0001c0001t0005 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0001c0002t0012 a0001c0002t0015 a0001c0002t0020 a0001c0002t0021 a0001c0002t0024 a0001c0002t0025 a0001c0002t0027 a0001c0006t0001 a0001c0019t0012 a0002c0003t0001 a0003c0004t0001 a0003c0004t0022 a0004c0005t0005 a0005c0008t0001 a0007c0016t0008 a0008c0017t0001 a0009c0015t0001 a0011c0011t0001 a0012c0018t0012 a0013c0014t0023 a0014c0020t0001	a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0005g0123 others(159): Show a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0128 a0001c0001t0005g0246 a0001c0001t0009g0024 a0001c0001t0009g0082 a0001c0001t0009g0083 a0001c0001t0009g0084 a0001c0002t0001g0005 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0060 a0001c0002t0001g0085 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0161 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0225 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0002g0014 a0001c0002t0002g0130 a0001c0002t0002g0151 a0001c0002t0002g0163 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0194 a0001c0002t0005g0202 a0001c0002t0007g0033 a0001c0002t0010g0057 a0001c0002t0010g0058 a0001c0002t0010g0059 a0001c0002t0012g0132 a0001c0002t0015g0162 a0001c0002t0020g0188 a0001c0002t0021g0226 a0001c0002t0024g0190 a0001c0002t0025g0192 a0001c0002t0027g0294 a0001c0006t0001g0006 a0001c0006t0001g0131 a0001c0019t0012g0211 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0136 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0144 a0003c0004t0001g0048 a0003c0004t0001g0049 a0003c0004t0001g0231 a0003c0004t0001g0232 a0003c0004t0001g0233 a0003c0004t0001g0235 a0003c0004t0001g0236 a0003c0004t0022g0234 a0004c0005t0005g0249 a0004c0005t0005g0250 a0004c0005t0005g0251 a0004c0005t0005g0252 a0004c0005t0005g0253 a0004c0005t0005g0254 a0004c0005t0005g0255 a0004c0005t0005g0256 a0005c0008t0001g0216 a0005c0008t0001g0217 a0005c0008t0001g0218 a0005c0008t0001g0219 a0007c0016t0008g0248 a0008c0017t0001g0224 a0009c0015t0001g0160 a0011c0011t0001g0145 a0012c0018t0012g0133 a0013c0014t0023g0201 a0014c0020t0001g0237	204	402	0.5075	-121	c.-29 others(11): Show c.-2961_-2841del		FCRL4	ENSG00000163518.11	transcript	ENST00000271532.2	protein_coding					2700		chr1	TogoVar
FHIT_chr3_59742277_61256452	60699585	TAAAAGCA others(114): Show TAAAAGCATTATCGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATA CATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGT ATAATAAAAAAAAATTAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01167.hp2 HG01169.hp2 others(6): Show HG00735.hp2 HG01167.hp2 HG01169.hp2 HG02258.hp2 HG02723.hp1 HG02723.hp2 HG03139.hp1 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0002g0002 a0001c0001t0002g0021 a0001c0001t0003g0026 a0001c0001t0005g0028 a0001c0001t0007g0007 a0001c0001t0015g0010	9	46	0.1957	-121	c.-18 others(21): Show c.-18+122213_-18+122333del		FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	4/9						chr3	TogoVar
FLRT3_chr20_14317985_14342612	14339000	TGACCTTC others(114): Show TGACCTTCTCCTTTGTCCTTTCTCAATTTTTCCCTGCATGTTTATTTCTG AAGAAGGCCAGCTAATAGTCTTTCCCAGGACTATTTGATTGTGGTCTCTT CATTAGCTTCATTTAGTTTATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0003 a0002c0003t0004g0003	1	430	0.0023	-121	c.-19 others(11): Show c.-1964_-1844del		FLRT3	ENSG00000125848.10	transcript	ENST00000341420.5	protein_coding					1389		chr20	TogoVar

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