Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
DLGAP2_chr8_732628_1713476	933871	ATGGAGAC others(44): Show ATGGAGACACCTGGCCGTGGGCACGAGGGGAGGGTGAGGGCAGAGCCTGC TG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	-51	c.73+ others(68): Show c.73+26358_73+26408delCCTGCTGTGGAGACACCTGGCCGTGGGC ACGAGGGGAGGGTGAGGGCAGAG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1140332	CCATCTGG others(44): Show CCATCTGGAAGGCAGAACAGGGCACACACACCTGCTCCGTCCTCTTTGCA GT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp1 HG01891.hp1 HG00639.hp1 HG01361.hp1 HG01891.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0003t0024 a0002c0001t0001 a0001c0002t0001 a0001c0003t0024 a0002c0001t0001	a0001c0002t0001g0019 a0001c0003t0024g0003 a0002c0001t0001g0018 a0001c0002t0001g0019 a0001c0003t0024g0003 a0002c0001t0001g0018	3	40	0.0750	-51	c.74- others(70): Show c.74-118517_74-118467delATCTGGAAGGCAGAACAGGGCACACA CACCTGCTCCGTCCTCTTTGCAGTC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1247251	TTTGAGAT others(44): Show TTTGAGATCAGTGTGGGAGTGAGATGGTCCACATCGGTGGCTGGGAAGAC CA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0023 a0001c0002t0027g0023	1	40	0.0250	-51	c.74- others(68): Show c.74-11578_74-11528delGATGGTCCACATCGGTGGCTGGGAAGAC CATTGAGATCAGTGTGGGAGTGA		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1450034	ACGTGTGA others(44): Show ACGTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGTGACTGTAG CG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0036 a0001c0012t0004g0036	1	40	0.0250	-51	c.107 others(70): Show c.107-51331_107-51281delCGTGTGAGGGTGAAGACGAGGTGGGC GGCCTCGGTGGCTGTGACTGTAGCG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14						chr8	TogoVar
DLGAP2_chr8_732628_1713476	1649269	CTAAATTC others(44): Show CTAAATTCTTTTTGCTTCTTCAAAGCTACCAGAATACTCAATACCCAGTG TG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01071.hp2 others(23): Show HG00639.hp2 HG01071.hp1 HG01071.hp2 HG01361.hp1 HG01496.hp1 HG01891.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02258.hp1 HG02258.hp2 HG02698.hp1 HG02698.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03710.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0009 others(6): Show a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0002c0001 a0002c0004 a0002c0007	a0001c0002t0001 a0001c0002t0002 a0001c0002t0022 others(19): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0022 a0001c0003t0001 a0001c0003t0006 a0001c0003t0014 a0001c0009t0012 a0001c0010t0025 a0001c0011t0015 a0001c0012t0004 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0007 a0002c0001t0011 a0002c0001t0019 a0002c0001t0020 a0002c0004t0003 a0002c0004t0018 a0002c0004t0026 a0002c0007t0008	a0001c0002t0001g0015 a0001c0002t0002g0021 a0001c0002t0022g0034 others(23): Show a0001c0002t0001g0015 a0001c0002t0002g0021 a0001c0002t0022g0034 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0006g0033 a0001c0003t0014g0020 a0001c0009t0012g0006 a0001c0010t0025g0012 a0001c0011t0015g0002 a0001c0012t0004g0036 a0002c0001t0001g0018 a0002c0001t0002g0032 a0002c0001t0003g0017 a0002c0001t0003g0022 a0002c0001t0005g0028 a0002c0001t0005g0035 a0002c0001t0007g0038 a0002c0001t0011g0001 a0002c0001t0019g0030 a0002c0001t0020g0024 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0026g0016 a0002c0007t0008g0040	26	40	0.6500	-51	c.181 others(72): Show c.1810+16257_1810+16307delTACTCAATACCCAGTGTGTAAATT CTTTTTGCTTCTTCAAAGCTACCAGAA		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DMKN_chr19_35492220_35518649	35511459	ACTGCTGC others(44): Show ACTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCAC TG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00408.hp1 HG00423.hp1 others(113): Show HG00099.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00733.hp1 HG01069.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02523.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02723.hp1 HG02738.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG04115.hp1 NA18939.hp2 NA18940.hp2 NA18946.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19086.hp1 NA19090.hp1 NA19091.hp1	a0001 a0011 a0025 a0001 a0011 a0025	a0001c0001 a0001c0026 a0001c0051 others(3): Show a0001c0001 a0001c0026 a0001c0051 a0011c0016 a0011c0018 a0025c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0026t0001 a0001c0051t0001 a0011c0016t0001 a0011c0018t0001 a0025c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(54): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0002g0208 a0001c0001t0006g0248 a0001c0026t0001g0055 a0001c0051t0001g0269 a0011c0016t0001g0142 a0011c0016t0001g0143 a0011c0016t0001g0144 a0011c0016t0001g0145 a0011c0016t0001g0146 a0011c0018t0001g0022 a0011c0018t0001g0164 a0025c0023t0001g0202 a0025c0023t0001g0203	116	442	0.2624	-51	c.819 others(58): Show c.819_869delCAGTGGCAGCAGCAGTGGCGGCAGCAGTGGCGGCAGCA GTGGTGGCAGCAG	p.Ser others(13): Show p.Ser274_Ser290del	DMKN	ENSG00000161249.21	transcript	ENST00000339686.8	protein_coding	5/16	1043/1924	819/1431	273/476			chr19	TogoVar
DNAAF5_chr7_721699_791475	746397	CCCTCCTT others(44): Show CCCTCCTTACCGTCCTGCTGCCCCCCACCCAACATGCCCAGGGCCTGTGA CG	C C	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0122 a0003c0003t0003g0122	1	378	0.0027	-51	c.102 others(70): Show c.1024+4935_1024+4985delTCCTTACCGTCCTGCTGCCCCCCACC CAACATGCCCAGGGCCTGTGACGCC		DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH17_chr17_78418697_78582396	78435973	TTTGACAA others(44): Show TTTGACAAGGGTGTGTCCTTTAAAAGCTGGTTGGGAATTGTTAATGGGTG AC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0134 a0134	a0134c0034 a0134c0034	a0134c0034t0001 a0134c0034t0001	a0134c0034t0001g0228 a0134c0034t0001g0228	1	252	0.0040	-51	c.120 others(72): Show c.12033+1617_12033+1667delGTCACCCATTAACAATTCCCAACC AGCTTTTAAAGGACACACCCTTGTCAA		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	74/80						chr17	TogoVar
DNAH6_chr2_84511498_84824589	84691636	CCCAACCC others(44): Show CCCAACCCTGCTGTCATAATGCATAAGCAGCCACAGACAGTAAGTGAATG AA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00735.hp1 others(23): Show HG00099.hp1 HG00140.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01361.hp2 HG01934.hp2 HG02258.hp2 HG02486.hp1 HG02647.hp1 HG02723.hp1 HG02738.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03471.hp2 HG03486.hp2 HG03654.hp1 HG04204.hp1 NA20129.hp2	a0001 a0004 a0010 others(2): Show a0001 a0004 a0010 a0013 a0014	a0001c0005 a0001c0010 a0001c0020 others(9): Show a0001c0005 a0001c0010 a0001c0020 a0001c0021 a0001c0026 a0001c0028 a0001c0036 a0004c0007 a0004c0008 a0010c0016 a0013c0027 a0014c0017	a0001c0005t0001 a0001c0010t0001 a0001c0020t0001 others(9): Show a0001c0005t0001 a0001c0010t0001 a0001c0020t0001 a0001c0021t0001 a0001c0026t0001 a0001c0028t0001 a0001c0036t0003 a0004c0007t0001 a0004c0008t0001 a0010c0016t0001 a0013c0027t0001 a0014c0017t0001	a0001c0005t0001g0018 a0001c0005t0001g0019 a0001c0005t0001g0023 others(23): Show a0001c0005t0001g0018 a0001c0005t0001g0019 a0001c0005t0001g0023 a0001c0005t0001g0024 a0001c0005t0001g0029 a0001c0010t0001g0020 a0001c0010t0001g0025 a0001c0010t0001g0026 a0001c0020t0001g0031 a0001c0021t0001g0032 a0001c0026t0001g0015 a0001c0028t0001g0017 a0001c0036t0003g0060 a0004c0007t0001g0106 a0004c0007t0001g0108 a0004c0007t0001g0109 a0004c0007t0001g0114 a0004c0008t0001g0110 a0004c0008t0001g0111 a0004c0008t0001g0112 a0004c0008t0001g0113 a0010c0016t0001g0083 a0010c0016t0001g0084 a0013c0027t0001g0016 a0014c0017t0001g0115 a0014c0017t0001g0116	26	116	0.2241	-51	c.729 others(70): Show c.7293-2612_7293-2562delCCAACCCTGCTGTCATAATGCATAAG CAGCCACAGACAGTAAGTGAATGAA		DNAH6	ENSG00000115423.19	transcript	ENST00000389394.8	protein_coding	45/76						chr2	TogoVar
DNAH8_chr6_38710311_39035792	38922022	TAATGTCA others(44): Show TAATGTCATCAGTTAAGGCAGGAACAGGCCATTTTCACTTCTTTTGTGGT GG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00558.hp2 others(80): Show HG00099.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02135.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02602.hp1 HG02622.hp1 HG02683.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02976.hp1 HG03490.hp1 HG03516.hp2 HG03654.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18954.hp2 NA18959.hp1 NA18963.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18972.hp1 NA18972.hp2 NA18979.hp2 NA18990.hp1 NA19000.hp1 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19056.hp2 NA19063.hp2 NA19077.hp2 NA19081.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20752.hp1	a0001 a0002 a0003 others(29): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0019 a0020 a0021 a0027 a0029 a0034 a0038 a0039 a0044 a0057 a0058 a0059 a0060 a0062 a0063 a0067 a0073 a0074 a0079	a0001c0001 a0001c0035 a0001c0103 others(43): Show a0001c0001 a0001c0035 a0001c0103 a0001c0129 a0002c0004 a0002c0010 a0002c0013 a0003c0002 a0003c0017 a0004c0006 a0004c0015 a0005c0003 a0006c0005 a0006c0029 a0007c0012 a0007c0019 a0007c0066 a0007c0131 a0008c0008 a0009c0018 a0009c0052 a0009c0056 a0010c0009 a0011c0042 a0011c0116 a0012c0126 a0014c0020 a0019c0026 a0020c0033 a0021c0032 a0027c0028 a0029c0070 a0034c0048 a0038c0087 a0039c0088 a0044c0084 a0057c0114 a0058c0109 a0059c0113 a0060c0112 a0062c0120 a0063c0121 a0067c0064 a0073c0072 a0074c0074 a0079c0139	a0001c0001t0001 a0001c0035t0001 a0001c0103t0001 others(43): Show a0001c0001t0001 a0001c0035t0001 a0001c0103t0001 a0001c0129t0001 a0002c0004t0001 a0002c0010t0001 a0002c0013t0001 a0003c0002t0001 a0003c0017t0001 a0004c0006t0001 a0004c0015t0001 a0005c0003t0001 a0006c0005t0001 a0006c0029t0001 a0007c0012t0001 a0007c0019t0001 a0007c0066t0001 a0007c0131t0001 a0008c0008t0001 a0009c0018t0001 a0009c0052t0001 a0009c0056t0001 a0010c0009t0001 a0011c0042t0001 a0011c0116t0001 a0012c0126t0001 a0014c0020t0001 a0019c0026t0001 a0020c0033t0001 a0021c0032t0001 a0027c0028t0001 a0029c0070t0001 a0034c0048t0001 a0038c0087t0001 a0039c0088t0001 a0044c0084t0001 a0057c0114t0001 a0058c0109t0001 a0059c0113t0001 a0060c0112t0001 a0062c0120t0001 a0063c0121t0001 a0067c0064t0001 a0073c0072t0001 a0074c0074t0001 a0079c0139t0001	a0001c0001t0001g0022 a0001c0001t0001g0092 a0001c0001t0001g0093 others(80): Show a0001c0001t0001g0022 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0149 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0215 a0001c0035t0001g0166 a0001c0103t0001g0118 a0001c0129t0001g0221 a0002c0004t0001g0079 a0002c0010t0001g0129 a0002c0013t0001g0056 a0002c0013t0001g0057 a0002c0013t0001g0058 a0002c0013t0001g0059 a0002c0013t0001g0081 a0003c0002t0001g0209 a0003c0017t0001g0050 a0004c0006t0001g0035 a0004c0006t0001g0039 a0004c0006t0001g0095 a0004c0006t0001g0106 a0004c0006t0001g0115 a0004c0006t0001g0192 a0004c0006t0001g0195 a0004c0006t0001g0198 a0004c0015t0001g0030 a0004c0015t0001g0033 a0004c0015t0001g0077 a0004c0015t0001g0273 a0005c0003t0001g0014 a0006c0005t0001g0032 a0006c0029t0001g0015 a0007c0012t0001g0021 a0007c0012t0001g0180 a0007c0012t0001g0243 a0007c0012t0001g0255 a0007c0019t0001g0020 a0007c0019t0001g0217 a0007c0066t0001g0040 a0007c0131t0001g0264 a0008c0008t0001g0136 a0008c0008t0001g0188 a0009c0018t0001g0038 a0009c0052t0001g0004 a0009c0056t0001g0083 a0010c0009t0001g0005 a0010c0009t0001g0062 a0010c0009t0001g0087 a0010c0009t0001g0120 a0010c0009t0001g0161 a0011c0042t0001g0222 a0011c0042t0001g0223 a0011c0116t0001g0191 a0012c0126t0001g0208 a0014c0020t0001g0071 a0014c0020t0001g0072 a0019c0026t0001g0212 a0019c0026t0001g0216 a0020c0033t0001g0123 a0020c0033t0001g0124 a0021c0032t0001g0052 a0021c0032t0001g0053 a0027c0028t0001g0231 a0027c0028t0001g0268 a0029c0070t0001g0019 a0034c0048t0001g0184 a0038c0087t0001g0190 a0039c0088t0001g0137 a0044c0084t0001g0063 a0057c0114t0001g0269 a0058c0109t0001g0006 a0059c0113t0001g0142 a0060c0112t0001g0002 a0062c0120t0001g0025 a0063c0121t0001g0116 a0067c0064t0001g0138 a0073c0072t0001g0164 a0074c0074t0001g0061 a0079c0139t0001g0119	83	284	0.2923	-51	c.106 others(70): Show c.10662+541_10662+591delAGGCCATTTTCACTTCTTTTGTGGTG GAATGTCATCAGTTAAGGCAGGAAC		DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	71/92					INFO_REALIGN_3_PRIME	chr6	TogoVar
DOCK5_chr8_25179689_25420711	25216558	GTGCATAC others(44): Show GTGCATACAATATGTATAGATGTATACAATATGTGCATACAATATGTATA GA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0044 a0001c0035t0044	a0001c0035t0044g0203 a0001c0035t0044g0203	1	210	0.0048	-51	c.44- others(68): Show c.44-27113_44-27063delCATACAATATGTATAGATGTATACAATA TGTGCATACAATATGTATAGATG		DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51					INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25216654	GTGTATAC others(44): Show GTGTATACAATATGTATAGATGTATACAATATGTGTATACAATATGTATA GA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02886.hp1 NA18906.hp2 HG02145.hp1 HG02886.hp1 NA18906.hp2	a0001 a0001	a0001c0012 a0001c0015 a0001c0018 a0001c0012 a0001c0015 a0001c0018	a0001c0012t0005 a0001c0015t0020 a0001c0018t0001 a0001c0012t0005 a0001c0015t0020 a0001c0018t0001	a0001c0012t0005g0148 a0001c0015t0020g0180 a0001c0018t0001g0149 a0001c0012t0005g0148 a0001c0015t0020g0180 a0001c0018t0001g0149	3	210	0.0143	-51	c.44- others(68): Show c.44-27005_44-26955delATAGATGTATACAATATGTGTATACAAT ATGTATAGATGTATACAATATGT		DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51					INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25216718	GTGTATAC others(44): Show GTGTATACAATATGTATAGATGTATACAATATGTGTATACAATATGTATA GA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0081 a0001c0002t0081	a0001c0002t0081g0126 a0001c0002t0081g0126	1	210	0.0048	-51	c.44- others(68): Show c.44-26941_44-26891delATAGATGTATACAATATGTGTATACAAT ATGTATAGATGTATACAATATGT		DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51					INFO_REALIGN_3_PRIME	chr8	TogoVar
DOK1_chr2_74549720_74562551	74561103	GAGGAGGA others(44): Show GAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGA GA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	334	0.0030	-51	c.39 others(62): Show c.3990_*4040delAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGA GGAGAAGGAGGAGGAGA		DOK1	ENSG00000115325.14	transcript	ENST00000233668.10	protein_coding					3553		chr2	TogoVar
DPEP1_chr16_89608642_89643433	89615370	GCTGGTCT others(44): Show GCTGGTCTACACGCAGCTCTGGAGTCTCTGGACCTGTGTCCTGTGCGTAC AT	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	250	0.0040	-51	c.-10 others(70): Show c.-107+1653_-107+1703delTGGTCTACACGCAGCTCTGGAGTCTC TGGACCTGTGTCCTGTGCGTACATC		DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
DPPA5_chr6_73348063_73359276	73354654	CTGCCTCA others(44): Show CTGCCTCACACGTTCCAAAGAAGGGTCCGTATCCCCTCGGCCTTAAGGAG CA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	-51	c.-48 others(60): Show c.-480_-430delTGCTCCTTAAGGCCGAGGGGATACGGACCCTTCTTT GGAACGTGTGAGGCA		DPPA5	ENSG00000203909.4	transcript	ENST00000370370.4	protein_coding					379		chr6	TogoVar
DUSP1_chr5_172763096_172776195	172764119	TGGGCGCT others(44): Show TGGGCGCTCAAGCACGAGCGCCCCTCCGGAGCGCTCCAGAGCCACTCCGG AG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	462	0.0022	-51	c.45 others(62): Show c.4592_*4642delCTCCGGAGTGGCTCTGGAGCGCTCCGGAGGGGCG CTCGTGCTTGAGCGCCC		DUSP1	ENSG00000120129.6	transcript	ENST00000239223.4	protein_coding					3976		chr5	TogoVar
DUXA_chr19_57149021_57172485	57172054	GGGGCGTG others(44): Show GGGGCGTGCGAGGGGGCGGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGG GC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19077.hp2 NA19030.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0022 a0001c0001t0002g0115 a0001c0001t0001g0022 a0001c0001t0002g0115	2	446	0.0045	-51	c.-46 others(62): Show c.-4662_-4612delGCCCCCTCGCGCGCCCCGCCCCCTCGCGCGCCCC CGCCCCCTCGCACGCCC		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding					4570		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172071	GGGGGCGC others(44): Show GGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGG GC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	446	0.0022	-51	c.-46 others(62): Show c.-4679_-4629delGCCCCCTCGCGCGCCCCGCCCCCTCGCGCGCCCC GCCCCCTCGCGCGCCCC		DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding					4587		chr19	TogoVar
DYNLT3_chrX_37833836_37852571	37842388	AATTATAT others(44): Show AATTATATTCTCATTCATACTATGTGATTGTTTAGCTATGAAACAACAAC TG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02622.hp2 HG02647.hp1 others(2): Show HG00597.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0004 a0001c0002t0008	a0001c0001t0001g0105 a0001c0001t0004g0020 a0001c0002t0004g0037 others(1): Show a0001c0001t0001g0105 a0001c0001t0004g0020 a0001c0002t0004g0037 a0001c0002t0008g0038	5	324	0.0154	-51	c.73- others(64): Show c.73-534_73-484delCAGTTGTTGTTTCATAGCTAAACAATCACATA GTATGAATGAGAATATAAT		DYNLT3	ENSG00000165169.11	transcript	ENST00000378578.9	protein_coding	2/4						chrX	TogoVar
EDNRA_chr4_147476097_147549954	147544520	CATATTTT others(44): Show CATATTTTAGGACAGGTAAAATAACATCAGGTTCCAGTTGCTTGAATTGC AA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0011 a0001c0001t0027g0011	1	280	0.0036	-51	c.19 others(62): Show c.1903_*1953delATATTTTAGGACAGGTAAAATAACATCAGGTTCC AGTTGCTTGAATTGCAA		EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	8/8				1903		chr4	TogoVar
EIF3CL_chr16_28374715_28408841	28380189	TGCTCCAA others(44): Show TGCTCCAATCCCTCCATGGCTCCACCTGCCCGCTTCCCACCCCGGCCCCT AC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00642.hp2 others(35): Show HG00280.hp1 HG00639.hp1 HG00642.hp2 HG01070.hp2 HG01074.hp1 HG01106.hp1 HG01255.hp1 HG01258.hp2 HG01433.hp2 HG02015.hp2 HG02071.hp1 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG03540.hp1 HG03654.hp1 HG03927.hp1 NA18522.hp1 NA18522.hp2 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0006 a0001c0012 others(5): Show a0001c0001 a0001c0006 a0001c0012 a0002c0002 a0002c0018 a0003c0003 a0004c0004 a0006c0009	a0001c0001t0001 a0001c0006t0001 a0001c0012t0002 others(5): Show a0001c0001t0001 a0001c0006t0001 a0001c0012t0002 a0002c0002t0001 a0002c0018t0001 a0003c0003t0002 a0004c0004t0001 a0006c0009t0002	a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0001t0001g0118 others(35): Show a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0006t0001g0139 a0001c0006t0001g0142 a0001c0006t0001g0143 a0001c0006t0001g0147 a0001c0012t0002g0009 a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0018t0001g0028 a0003c0003t0002g0010 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0016 a0004c0004t0001g0136 a0006c0009t0002g0015	38	172	0.2209	-51	c.249 others(66): Show c.2499+52_2500-52delGTAGGGGCCGGGGTGGGAAGCGGGCAGGTG GAGCCATGGAGGGATTGGAGC		EIF3CL	ENSG00000205609.13	transcript	ENST00000380876.5	protein_coding	19/20						chr16	TogoVar
EIPR1_chr2_3183970_3382818	3247001	GGAGGAGA others(44): Show GGAGGAGAGAGCGAGGGAGGGAGAGAGCGAGGGAGGGAGAGAGGGAGGGA GA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02965.hp1 HG02257.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0048 a0001c0001t0004g0050 a0001c0001t0001g0048 a0001c0001t0004g0050	2	250	0.0080	-51	c.416 others(70): Show c.416+10247_416+10297delTCTCCCTCCCTCTCTCCCTCCCTCGC TCTCTCCCTCCCTCGCTCTCTCCTC		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8						chr2	TogoVar
EIPR1_chr2_3183970_3382818	3336841	AGGAAGGG others(44): Show AGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGA AG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01884.hp2 HG02145.hp2 others(10): Show HG01123.hp2 HG01884.hp2 HG02145.hp2 HG02451.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02809.hp2 HG02895.hp2 HG03195.hp2 HG03540.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0014 a0001c0001t0001g0229 a0001c0001t0001g0231 others(10): Show a0001c0001t0001g0014 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0003g0234	13	250	0.0520	-51	c.259 others(68): Show c.259+1125_259+1175delCTTCCCTTTTCCCTTCCCTTCCCTTTTC CCTTCCCTTCCCTTTTCCCTTCC		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8						chr2	TogoVar
ELP1_chr9_108862517_108939124	108900756	ACACACAC others(44): Show ACACACACACATACACGCCACACACACATACACGCCACACACACATACAC GC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01515.hp1 HG01517.hp2 others(14): Show HG01243.hp2 HG01515.hp1 HG01517.hp2 HG02056.hp2 HG02165.hp1 HG02451.hp2 HG02602.hp1 HG02615.hp1 HG02647.hp2 HG02895.hp2 HG03041.hp2 HG03225.hp1 HG03654.hp1 HG03710.hp2 NA18747.hp1 NA18942.hp1 NA18967.hp2	a0001 a0006 a0007 others(2): Show a0001 a0006 a0007 a0010 a0016	a0001c0001 a0001c0015 a0006c0006 others(3): Show a0001c0001 a0001c0015 a0006c0006 a0007c0010 a0010c0014 a0016c0025	a0001c0001t0002 a0001c0001t0003 a0001c0015t0014 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0015t0014 a0006c0006t0008 a0007c0010t0009 a0010c0014t0012 a0016c0025t0008	a0001c0001t0002g0319 a0001c0001t0002g0322 a0001c0001t0002g0323 others(13): Show a0001c0001t0002g0319 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0344 a0001c0001t0002g0356 a0001c0001t0003g0055 a0001c0015t0014g0263 a0001c0015t0014g0264 a0006c0006t0008g0375 a0006c0006t0008g0378 a0006c0006t0008g0379 a0006c0006t0008g0380 a0006c0006t0008g0382 a0007c0010t0009g0360 a0010c0014t0012g0021 a0016c0025t0008g0376	17	416	0.0409	-51	c.201 others(68): Show c.2015-432_2015-382delGCGTGTATGTGTGTGTGGCGTGTATGTG TGTGTGGCGTGTATGTGTGTGTG		ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36						chr9	TogoVar
EML1_chr14_99788413_99947060	99927846	ATGGTGGT others(44): Show ATGGTGGTGGTGGTAGTGGTAGTAGTGGTGGCGGTGGTGGTGGTGGTGGT GG	A A	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0141 a0001c0003t0004g0141	1	288	0.0035	-51	c.190 others(70): Show c.1909+6983_1909+7033delAGTGGTAGTAGTGGTGGCGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGT		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
ENOSF1_chr18_665318_717630	667405	GTGATGGT others(44): Show GTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGT GA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0175 a0002c0002t0005g0175	1	418	0.0024	-51	c.68 others(62): Show c.6849_*6899delTCACCATCACCATCACCATCACCATCTCCATCAC CATCACCATCACCATCA		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2912		chr18	TogoVar
ENOSF1_chr18_665318_717630	667412	TGATGGTG others(44): Show TGATGGTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGATG GA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	418	0.0024	-51	c.68 others(62): Show c.6842_*6892delTCCATCATCACCATCACCATCACCATCACCATCT CCATCACCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2905		chr18	TogoVar
ENOSF1_chr18_665318_717630	667430	AGATGGTG others(44): Show AGATGGTGATGGTGATGGTGATGGTGATGATGGAGATGGTGATGGTGATG GT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0113 a0002c0002t0004g0113	1	418	0.0024	-51	c.68 others(62): Show c.6824_*6874delACCATCACCATCACCATCTCCATCATCACCATCA CCATCACCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2887		chr18	TogoVar
ENOSF1_chr18_665318_717630	667448	TGATGGTG others(44): Show TGATGGTGATGATGGAGATGGTGATGGTGATGGTGATGGTGATGGTGATG GA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0002 a0008c0016t0002	a0008c0016t0002g0123 a0008c0016t0002g0123	1	418	0.0024	-51	c.68 others(62): Show c.6806_*6856delTCCATCACCATCACCATCACCATCACCATCACCA TCTCCATCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2869		chr18	TogoVar
EPAS1_chr2_46292407_46391697	46379332	ACCATTAA others(44): Show ACCATTAATCCCCCATTTGTCTTAGTCTTGAGTTCAACCAGATTTCTGCC TT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	326	0.0031	-51	c.155 others(68): Show c.1554+566_1554+616delCCATTAATCCCCCATTTGTCTTAGTCTT GAGTTCAACCAGATTTCTGCCTT		EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	11/15						chr2	TogoVar
EPB41L4A_chr5_112157619_112424277	112339489	TATATATC others(44): Show TATATATCTATATATATATATAGATATATAGATATATATCTATATATATA TA	T T	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0178 a0001c0001t0005g0178	1	228	0.0044	-51	c.100 others(70): Show c.100-32050_100-32000delTATATATATATAGATATATATCTATA TATCTATATATATATATAGATATAT		EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22						chr5	TogoVar
EPSTI1_chr13_42881388_42997241	42965708	TCTCCCTC others(44): Show TCTCCCTCTCCCTCTCCCTCTCCCTCGTCTCCCTCTCCCTCGTCTCCCTC TC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	352	0.0028	-51	c.332 others(68): Show c.332-1620_332-1570delGAGAGGGAGACGAGGGAGAGGGAGACGA GGGAGAGGGAGAGGGAGAGGGAG		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10						chr13	TogoVar
ERBB4_chr2_211370717_212543802	212395506	AATTAAGC others(44): Show AATTAAGCCTATGCTAAGGAAAGAGCATACCTTTATGCTTACCGCTATGT GT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03225.hp1 HG03486.hp1 HG01891.hp1 HG03225.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0022 a0001c0002t0016 a0001c0001t0012 a0001c0001t0022 a0001c0002t0016	a0001c0001t0012g0001 a0001c0001t0022g0006 a0001c0002t0016g0019 a0001c0001t0012g0001 a0001c0001t0022g0006 a0001c0002t0016g0019	3	56	0.0536	-51	c.82+ others(70): Show c.82+142892_82+142942delACACATAGCGGTAAGCATAAAGGTAT GCTCTTTCCTTAGCATAGGCTTAAT		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27						chr2	TogoVar
ERC2_chr3_55503311_56473467	55720120	CCTTCTTC others(44): Show CCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTC TT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0001t0006g0026 a0001c0001t0006g0027	2	74	0.0270	-51	c.271 others(72): Show c.2712+14600_2712+14650delAAGAAGAAGAAGAAGAAGAAGAAG AAGAGGAAGAAGAAGAGGAAGAAGAAG		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17						chr3	TogoVar
ERICH5_chr8_98059568_98098609	98073453	TATATATG others(44): Show TATATATGTATATATATATATATATATATATATGTATATATATATATATA TA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0290	1	442	0.0023	-51	c.58+ others(66): Show c.58+8727_58+8777delATATATGTATATATATATATATATATATAT ATGTATATATATATATATATA		ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2						chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073494	ATATATAT others(44): Show ATATATATATATATATATATATGTATATATATATATATATATATATATAT AT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00408.hp2 others(17): Show HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00735.hp2 HG01074.hp2 HG01106.hp2 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01975.hp1 HG02040.hp1 HG02683.hp2 HG03239.hp1 HG03579.hp2 HG03942.hp1 NA18975.hp1 NA18979.hp1 NA18990.hp1 NA19060.hp1 NA19075.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0005 a0007c0014 a0001c0001 a0004c0005 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0004c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0004c0005t0001 a0007c0014t0001	a0001c0001t0001g0017 a0001c0001t0001g0143 a0001c0001t0001g0144 others(17): Show a0001c0001t0001g0017 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0164 a0001c0001t0001g0219 a0001c0001t0001g0327 a0001c0001t0001g0382 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0001g0401 a0001c0001t0002g0136 a0001c0001t0002g0159 a0001c0001t0002g0220 a0001c0001t0002g0335 a0001c0001t0002g0372 a0001c0001t0002g0379 a0001c0001t0002g0393 a0001c0001t0002g0423 a0004c0005t0001g0232 a0007c0014t0001g0414	20	442	0.0453	-51	c.58+ others(66): Show c.58+8768_58+8818delTATATATATATATATATATATGTATATATA TATATATATATATATATATAT		ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2						chr8	TogoVar
ESAM_chr11_124748126_124767290	124765979	TCAGCTGC others(44): Show TCAGCTGCTCAGGAAGCTTTGAGGCAGGAGGATTACTTGAGCCCAGGAGT TC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01346.hp2 others(9): Show HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01934.hp1 HG01943.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0001 a0001c0001t0001 a0001c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0015t0001g0095 a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0015t0001g0095	12	430	0.0279	-51	c.-38 others(62): Show c.-3876_-3826delGAACTCCTGGGCTCAAGTAATCCTCCTGCCTCAA AGCTTCCTGAGCAGCTG		ESAM	ENSG00000149564.12	transcript	ENST00000278927.10	protein_coding					3690		chr11	TogoVar
EXOC3L2_chr19_45207370_45250407	45229291	TAAATATA others(44): Show TAAATATATACATATATTTATGTATTAAATATATACATATATTTATGTAT TA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0007 a0007	a0007c0030 a0007c0030	a0007c0030t0001 a0007c0030t0001	a0007c0030t0001g0341 a0007c0030t0001g0341	1	356	0.0028	-51	c.127 others(70): Show c.1270-1076_1270-1026delTAATACATAAATATATGTATATATTT AATACATAAATATATGTATATATTT		EXOC3L2	ENSG00000283632.4	transcript	ENST00000413988.3	protein_coding	4/11						chr19	TogoVar
F7_chr13_113100791_113125685	113107716	GGCGTGGG others(44): Show GGCGTGGGTGTCCCGGGAGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGG GA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02109.hp1 others(6): Show HG01069.hp1 HG01071.hp1 HG02109.hp1 HG03225.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp1 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0031 a0001c0001t0001g0005 a0001c0001t0001g0031	9	400	0.0225	-51	c.64+ others(66): Show c.64+1813_64+1863delCGTGGGTGTCCCGGGAGTGTGGGTGTCCCG GGGGCGTGGGTGTCCCGGGAG		F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113108452	TGGGTGTT others(44): Show TGGGTGTTCCGGAGGCGAGGGTGTCCCAGGAGCGTGGGTGTCCCGGAGGC GA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp1 others(93): Show HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01099.hp2 HG01243.hp2 HG01891.hp1 HG01928.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02165.hp2 HG02523.hp1 HG02523.hp2 HG02698.hp2 HG02738.hp2 HG02818.hp2 HG02976.hp2 HG03017.hp2 HG03139.hp1 HG03831.hp2 HG04184.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18978.hp1 NA18984.hp1 NA18993.hp1 NA18993.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0009t0001 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(51): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0002g0223 a0001c0001t0004g0234 a0001c0001t0017g0233 a0001c0001t0019g0214 a0001c0001t0023g0200 a0001c0009t0001g0001 a0002c0002t0003g0195 a0002c0002t0003g0198	96	400	0.2400	-51	c.65- others(66): Show c.65-2231_65-2181delTCCGGAGGCGAGGGTGTCCCAGGAGCGTGG GTGTCCCGGAGGCGAGGGTGT		F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
FAM172A_chr5_93612725_94116663	93873338	AGGAAAGG others(44): Show AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA GG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0093 a0001c0001t0005g0093	1	126	0.0079	-51	c.786 others(68): Show c.786+8081_786+8131delCCTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCC		FAM172A	ENSG00000113391.19	transcript	ENST00000395965.8	protein_coding	7/10						chr5	TogoVar
FAM174B_chr15_92612448_92660775	92630983	TATATATT others(44): Show TATATATTACGTATTACATATTACATATTATATATTATATATTACGTATT AC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG02145.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0004g0328 a0001c0001t0004g0329	2	394	0.0051	-51	c.345 others(66): Show c.345-689_345-639delGTAATACGTAATATATAATATATAATATGT AATATGTAATACGTAATATAT		FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2						chr15	TogoVar
FAM227B_chr15_49321970_49625818	49489809	ATATATAT others(44): Show ATATATATATATTTTATATATATATATATATTTTATATATATATATATAT TT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03098.hp1 HG02055.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0266 a0001c0001t0006g0268 a0001c0001t0006g0266 a0001c0001t0006g0268	2	294	0.0068	-51	c.101 others(72): Show c.1012+18351_1012+18401delAAATATATATATATATATAAAATA TATATATATATATAAAATATATATATA		FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15						chr15	TogoVar
FAM9B_chrX_9019232_9039127	9021333	TTATATTA others(44): Show TTATATTATATATATTATATATAATATATTATATTATATATATTATATAT AA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	258	0.0039	-51	c.40 others(62): Show c.4025_*4075delTTATATATAATATATATAATATAATATATTATAT ATAATATATATAATATA		FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding					2898		chrX	TogoVar
FAM9B_chrX_9019232_9039127	9022649	TTATATTA others(44): Show TTATATTATGTATAAGATATAATATATATTATATTATGTATAAGATATAA TA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	258	0.0039	-51	c.27 others(62): Show c.2709_*2759delTATTATATCTTATACATAATATAATATATATTAT ATCTTATACATAATATA		FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding					1582		chrX	TogoVar
FAM9B_chrX_9019232_9039127	9022692	GATATAAT others(44): Show GATATAATATATATTATGTATAAGATATAATATATATTATGTATAAGATA TA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	258	0.0039	-51	c.26 others(62): Show c.2666_*2716delTATATCTTATACATAATATATATTATATCTTATA CATAATATATATTATAT		FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding					1539		chrX	TogoVar
FAM9B_chrX_9019232_9039127	9022700	ATATATTA others(44): Show ATATATTATGTATAAGATATAATATATATTATGTATAAGATATAATATAT AT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03654.hp1 HG03704.hp2 others(1): Show HG03017.hp1 HG03654.hp1 HG03704.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	4	258	0.0155	-51	c.26 others(62): Show c.2658_*2708delATATATATTATATCTTATACATAATATATATTAT ATCTTATACATAATATA		FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding					1531		chrX	TogoVar
FANCL_chr2_58154247_58246325	58217133	TTATATAT others(44): Show TTATATATAGATTTATATATATATTTATATATTTTATATATATATATATA TA	T T	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	390	0.0026	-51	c.374 others(68): Show c.374+4758_374+4808delTATATATATATATATATAAAATATATAA ATATATATATAAATCTATATATA		FANCL	ENSG00000115392.13	transcript	ENST00000233741.9	protein_coding	5/13						chr2	TogoVar
FBLL1_chr5_168524305_168535634	168524930	GTTTGATA others(44): Show GTTTGATAGCTTGTATATATATATATATATATATATATATATATATATTT TT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00741.hp2 HG01106.hp1 others(7): Show HG00140.hp1 HG00741.hp2 HG01106.hp1 HG02735.hp2 HG03710.hp1 HG03942.hp2 NA18949.hp2 NA18960.hp2 NA18973.hp1 NA19067.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0000 a0003c0003t0002g0000	10	460	0.0217	-51	c.-45 others(62): Show c.-4574_-4524delTTTGATAGCTTGTATATATATATATATATATATA TATATATATATATTTTT		FBLL1	ENSG00000188573.8	transcript	ENST00000338333.5	protein_coding					4374		chr5	TogoVar

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