Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CFAP46_chr10_132803392_132947570	132914391	GCCCGAGG others(59): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCA GCCACACTGCACCCCGC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02647.hp1 NA18906.hp2 others(2): Show HG00438.hp2 HG02647.hp1 NA18906.hp2 NA18964.hp1 NA19056.hp2	a0001 a0002 a0021 others(1): Show a0001 a0002 a0021 a0043	a0001c0001 a0002c0003 a0021c0016 others(1): Show a0001c0001 a0002c0003 a0021c0016 a0043c0040	a0001c0001t0002 a0002c0003t0001 a0021c0016t0001 others(1): Show a0001c0001t0002 a0002c0003t0001 a0021c0016t0001 a0043c0040t0001	a0001c0001t0002g0047 a0002c0003t0001g0139 a0002c0003t0001g0145 others(2): Show a0001c0001t0002g0047 a0002c0003t0001g0139 a0002c0003t0001g0145 a0021c0016t0001g0171 a0043c0040t0001g0174	5	246	0.0203	-66	c.212 others(85): Show c.2121-1199_2121-1134delGCGGGGTGCAGTGTGGCTGGACACAG CCTCGGGGCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914589	CCCCGAGG others(59): Show CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGG	C C	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0145 a0002c0003t0001g0145	1	246	0.0041	-66	c.212 others(85): Show c.2121-1397_2121-1332delCCGGGGTGCAGTGTGGCTGGACACAG CCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP54_chr12_96484577_96880555	96664705	ATATATAT others(59): Show ATATATATATCTATATATATCTATATATATATATCTATATATATATATAT CTATATATATCTATATC	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0215 a0003c0002t0001g0215	1	268	0.0037	-66	c.556 others(83): Show c.5563+779_5563+844delATATCTATATATATCTATATATATATAT CTATATATATATATATCTATATATATCTATATCTATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96664711	ATATCTAT others(59): Show ATATCTATATATATCTATATATATATATCTATATATATATATATCTATAT ATATCTATATCTATATC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02523.hp1 HG02622.hp2 others(3): Show HG02145.hp1 HG02523.hp1 HG02622.hp2 HG02886.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0003 a0063 a0003 a0063	a0003c0002 a0063c0099 a0003c0002 a0063c0099	a0003c0002t0001 a0063c0099t0003 a0003c0002t0001 a0063c0099t0003	a0003c0002t0001g0216 a0003c0002t0001g0219 a0003c0002t0001g0221 others(3): Show a0003c0002t0001g0216 a0003c0002t0001g0219 a0003c0002t0001g0221 a0003c0002t0001g0226 a0003c0002t0001g0238 a0063c0099t0003g0195	6	268	0.0224	-66	c.556 others(83): Show c.5563+783_5563+848delCTATATATATCTATATATATATATCTAT ATATATATATATCTATATATATCTATATCTATATCTAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP58_chr10_104348833_104460102	104357924	CACATATA others(59): Show CACATATACACACATATATGTACACATATATACACATATATGTACACATA TGTACATATGTACACAT	C C	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	308	0.0033	-66	c.10- others(79): Show c.10-415_10-350delCATATACACACATATATGTACACATATATACA CATATATGTACACATATGTACATATGTACACATA	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP74_chr1_1916957_2008786	1928109	AGGCAAAC others(59): Show AGGCAAACCCTTGGGAGGAAGCCAGGCCGGGAAGGGCAAACCCTTGGGAG GAAGCCAGGCCGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01884.hp1 HG01884.hp2 others(10): Show HG01099.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02145.hp1 HG02258.hp2 HG02280.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp2 NA18522.hp1	a0005 a0012 a0025 others(4): Show a0005 a0012 a0025 a0027 a0029 a0039 a0064	a0005c0044 a0005c0083 a0012c0014 others(5): Show a0005c0044 a0005c0083 a0012c0014 a0025c0031 a0027c0034 a0029c0075 a0039c0048 a0064c0060	a0005c0044t0001 a0005c0083t0001 a0012c0014t0001 others(5): Show a0005c0044t0001 a0005c0083t0001 a0012c0014t0001 a0025c0031t0001 a0027c0034t0001 a0029c0075t0001 a0039c0048t0001 a0064c0060t0001	a0005c0044t0001g0066 a0005c0083t0001g0035 a0012c0014t0001g0038 others(10): Show a0005c0044t0001g0066 a0005c0083t0001g0035 a0012c0014t0001g0038 a0012c0014t0001g0039 a0012c0014t0001g0041 a0012c0014t0001g0104 a0025c0031t0001g0005 a0025c0031t0001g0075 a0027c0034t0001g0076 a0027c0034t0001g0140 a0029c0075t0001g0084 a0039c0048t0001g0119 a0064c0060t0001g0021	13	278	0.0468	-66	c.338 others(83): Show c.3388-429_3388-364delCTTCCCGGCCTGGCTTCCTCCCAAGGGT TTGCCCTTCCCGGCCTGGCTTCCTCCCAAGGGTTTGCC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	27/38			chr1	TogoVar
CFAP99_chr4_2413955_2468002	2442881	TCACTGGG others(59): Show TCACTGGGGGTGCTGGGGGCCTTGGGGGCAGGGAGCTCACTGGGGTGCTG GGGGCCTTGGGGGGAGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(243): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19060.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0016	a0001c0002 a0001c0003 a0001c0004 others(28): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0012 a0001c0013 a0001c0015 a0001c0018 a0001c0025 a0001c0032 a0002c0001 a0002c0005 a0002c0026 a0002c0027 a0002c0031 a0002c0039 a0003c0007 a0003c0010 a0003c0016 a0004c0008 a0005c0009 a0005c0017 a0006c0028 a0006c0029 a0007c0014 a0008c0011 a0009c0038 a0011c0037 a0012c0030 a0013c0020 a0016c0036	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(32): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0006t0002 a0001c0012t0001 a0001c0013t0001 a0001c0015t0001 a0001c0018t0001 a0001c0025t0001 a0001c0032t0001 a0002c0001t0001 a0002c0001t0004 a0002c0005t0001 a0002c0005t0002 a0002c0026t0001 a0002c0027t0001 a0002c0031t0001 a0002c0039t0001 a0003c0007t0001 a0003c0010t0001 a0003c0016t0001 a0004c0008t0001 a0005c0009t0001 a0005c0017t0001 a0006c0028t0001 a0006c0029t0001 a0007c0014t0001 a0008c0011t0001 a0009c0038t0001 a0011c0037t0001 a0012c0030t0001 a0013c0020t0001 a0016c0036t0002	a0001c0002t0001g0004 a0001c0002t0001g0011 a0001c0002t0001g0053 others(217): Show a0001c0002t0001g0004 a0001c0002t0001g0011 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0062 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0100 a0001c0002t0001g0118 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0003t0001g0004 a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0019 a0001c0003t0001g0021 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0028 a0001c0003t0001g0032 a0001c0003t0001g0050 a0001c0003t0001g0054 a0001c0003t0001g0060 a0001c0003t0001g0070 a0001c0003t0001g0072 a0001c0003t0001g0074 a0001c0003t0001g0081 a0001c0003t0001g0087 a0001c0003t0001g0101 a0001c0003t0001g0104 a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0003t0001g0110 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0124 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0129 a0001c0003t0001g0131 a0001c0003t0001g0138 a0001c0003t0001g0141 a0001c0003t0001g0161 a0001c0003t0001g0172 a0001c0003t0001g0174 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0003t0001g0218 a0001c0003t0001g0231 a0001c0003t0001g0232 a0001c0003t0001g0258 a0001c0003t0001g0293 a0001c0003t0001g0315 a0001c0004t0001g0086 a0001c0004t0001g0206 a0001c0004t0001g0305 a0001c0004t0001g0311 a0001c0004t0002g0043 a0001c0004t0002g0044 a0001c0004t0002g0045 a0001c0006t0001g0012 a0001c0006t0001g0029 a0001c0006t0001g0031 a0001c0006t0001g0098 a0001c0006t0001g0128 a0001c0006t0002g0034 a0001c0006t0002g0038 a0001c0006t0002g0040 a0001c0006t0002g0042 a0001c0006t0002g0173 a0001c0012t0001g0083 a0001c0012t0001g0084 a0001c0013t0001g0046 a0001c0013t0001g0115 a0001c0015t0001g0012 a0001c0015t0001g0285 a0001c0018t0001g0130 a0001c0018t0001g0162 a0001c0025t0001g0269 a0001c0032t0001g0261 a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0005 a0002c0001t0001g0006 a0002c0001t0001g0007 a0002c0001t0001g0008 a0002c0001t0001g0013 a0002c0001t0001g0017 a0002c0001t0001g0019 a0002c0001t0001g0020 a0002c0001t0001g0047 a0002c0001t0001g0061 a0002c0001t0001g0082 a0002c0001t0001g0085 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0112 a0002c0001t0001g0114 a0002c0001t0001g0122 a0002c0001t0001g0125 a0002c0001t0001g0135 a0002c0001t0001g0175 a0002c0001t0001g0180 a0002c0001t0001g0211 a0002c0001t0001g0214 a0002c0001t0001g0215 a0002c0001t0001g0216 a0002c0001t0001g0222 a0002c0001t0001g0223 a0002c0001t0001g0225 a0002c0001t0001g0227 a0002c0001t0001g0228 a0002c0001t0001g0233 a0002c0001t0001g0234 a0002c0001t0001g0235 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0243 a0002c0001t0001g0245 a0002c0001t0001g0246 a0002c0001t0001g0248 a0002c0001t0001g0251 a0002c0001t0001g0252 a0002c0001t0001g0253 a0002c0001t0001g0254 a0002c0001t0001g0255 a0002c0001t0001g0256 a0002c0001t0001g0264 a0002c0001t0001g0265 a0002c0001t0001g0267 a0002c0001t0001g0270 a0002c0001t0001g0271 a0002c0001t0001g0272 a0002c0001t0001g0273 a0002c0001t0001g0275 a0002c0001t0001g0279 a0002c0001t0001g0281 a0002c0001t0001g0282 a0002c0001t0001g0283 a0002c0001t0001g0284 a0002c0001t0001g0286 a0002c0001t0001g0290 a0002c0001t0001g0291 a0002c0001t0001g0295 a0002c0001t0001g0296 a0002c0001t0001g0299 a0002c0001t0001g0301 a0002c0001t0001g0304 a0002c0001t0004g0224 a0002c0005t0001g0007 a0002c0005t0001g0048 a0002c0005t0001g0102 a0002c0005t0001g0103 a0002c0005t0001g0105 a0002c0005t0001g0116 a0002c0005t0001g0163 a0002c0005t0001g0226 a0002c0005t0001g0244 a0002c0005t0001g0257 a0002c0005t0001g0263 a0002c0005t0001g0274 a0002c0005t0001g0276 a0002c0005t0001g0277 a0002c0005t0001g0300 a0002c0005t0002g0036 a0002c0005t0002g0037 a0002c0026t0001g0020 a0002c0027t0001g0278 a0002c0031t0001g0294 a0002c0039t0001g0001 a0003c0007t0001g0052 a0003c0007t0001g0065 a0003c0007t0001g0071 a0003c0007t0001g0117 a0003c0007t0001g0123 a0003c0007t0001g0259 a0003c0007t0001g0260 a0003c0007t0001g0268 a0003c0007t0001g0297 a0003c0010t0001g0064 a0003c0010t0001g0069 a0003c0010t0001g0080 a0003c0016t0001g0059 a0004c0008t0001g0003 a0004c0008t0001g0217 a0004c0008t0001g0229 a0004c0008t0001g0249 a0004c0008t0001g0266 a0005c0009t0001g0156 a0005c0009t0001g0158 a0005c0009t0001g0159 a0005c0009t0001g0160 a0005c0017t0001g0157 a0005c0017t0001g0166 a0006c0028t0001g0170 a0006c0029t0001g0171 a0007c0014t0001g0113 a0007c0014t0001g0262 a0008c0011t0001g0090 a0008c0011t0001g0091 a0009c0038t0001g0292 a0011c0037t0001g0280 a0012c0030t0001g0149 a0013c0020t0001g0073 a0016c0036t0002g0035	246	350	0.7029	-66	c.352 others(80): Show c.352-138_352-73delTGCTGGGGGCCTTGGGGGGAGCCACTGGGGG TGCTGGGGGCCTTGGGGGCAGGGAGCTCACTGGGG	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
CHRM5_chr15_33963497_34072458	34018831	ACTGATTG others(59): Show ACTGATTGGTGCATTTTTACAGAGTGCTGATCAGTGCATTTATAATCCTT TAGCTAAACACAGAGTG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01168.hp2 others(25): Show HG01070.hp2 HG01071.hp2 HG01168.hp2 HG01169.hp2 HG01257.hp2 HG01358.hp2 HG01952.hp1 HG02293.hp2 HG02451.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03540.hp2 HG03579.hp2 NA18951.hp2 NA18971.hp2 NA18987.hp2 NA18998.hp1 NA19060.hp2 NA19064.hp1 NA19082.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 others(8): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0001t0039 a0001c0002t0005 a0001c0002t0008 a0001c0009t0032	a0001c0001t0001g0286 a0001c0001t0009g0024 a0001c0001t0011g0287 others(25): Show a0001c0001t0001g0286 a0001c0001t0009g0024 a0001c0001t0011g0287 a0001c0001t0011g0288 a0001c0001t0013g0032 a0001c0001t0013g0033 a0001c0001t0013g0034 a0001c0001t0013g0038 a0001c0001t0013g0041 a0001c0001t0026g0061 a0001c0001t0026g0070 a0001c0001t0028g0044 a0001c0001t0031g0327 a0001c0001t0039g0276 a0001c0002t0005g0075 a0001c0002t0005g0101 a0001c0002t0005g0102 a0001c0002t0005g0143 a0001c0002t0005g0144 a0001c0002t0005g0208 a0001c0002t0008g0026 a0001c0002t0008g0027 a0001c0002t0008g0028 a0001c0002t0008g0029 a0001c0002t0008g0031 a0001c0002t0008g0042 a0001c0002t0008g0043 a0001c0009t0032g0290	28	338	0.0828	-66	c.-40 others(87): Show c.-407-27678_-407-27613delCAGTGCATTTATAATCCTTTAGCT AAACACAGAGTGCTGATTGGTGCATTTTTACAGAGTGCTGAT	CHRM5	ENSG00000184984.10	transcript	ENST00000383263.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNA4_chr20_63338223_63366349	63366105	AACTCCCT others(59): Show AACTCCCTGCCCTCGGCTGCGCTCCCAGCTCCCTGCCCTCTCCTGGTGCT CCCTGCCCTCTCCTAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	168	0.0060	-66	c.-50 others(77): Show c.-5006_-4941delACTAGGAGAGGGCAGGGAGCACCAGGAGAGGGCA GGGAGCTGGGAGCGCAGCCGAGGGCAGGGAGT	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		4757		chr20	TogoVar
CHRNB4_chr15_78619111_78646210	78632187	TTCTTTCT others(59): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03195.hp2 HG02145.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0090 a0001c0001t0005g0169 a0001c0001t0005g0090 a0001c0001t0005g0169	2	416	0.0048	-66	c.205 others(81): Show c.205-921_205-856delGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGA	CHRNB4	ENSG00000117971.12	transcript	ENST00000261751.8	protein_coding	2/5			chr15	TogoVar
CLDN16_chr3_190383163_190417138	190401240	CTGAATAT others(59): Show CTGAATATTATTTTATTTTCCAAAGCAAAGTGTTCTTATGTTTTTTTTTC TCCCCACAGCAATTTAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(138): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00673.hp1 HG00733.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01515.hp1 HG01517.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03098.hp1 HG03209.hp1 HG03225.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 NA18612.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19075.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0003c0003t0002	a0001c0001t0001g0092 a0001c0001t0001g0106 a0001c0001t0001g0111 others(69): Show a0001c0001t0001g0092 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0181 a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0027 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0088 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0003g0005 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0048 a0001c0001t0003g0060 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0115 a0001c0001t0003g0119 a0001c0001t0003g0122 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0006g0001 a0001c0001t0006g0008 a0001c0001t0006g0009 a0001c0001t0006g0012 a0001c0001t0006g0104 a0001c0001t0010g0105 a0001c0001t0018g0008 a0001c0001t0019g0001 a0001c0001t0020g0089 a0001c0001t0021g0103 a0003c0003t0002g0001	141	438	0.3219	-66	c.115 others(83): Show c.115-1096_115-1031delTGAATATTATTTTATTTTCCAAAGCAAA GTGTTCTTATGTTTTTTTTTCTCCCCACAGCAATTTAA	CLDN16	ENSG00000113946.4	transcript	ENST00000264734.3	protein_coding	1/4			chr3	TogoVar
CLDN16_chr3_190383163_190417138	190401242	GAATATTA others(59): Show GAATATTATTTTATTTTCCAAAGCAAAGTGTTCTTATGTTTTTTTTTCTC CCCACAGCAATTTAACC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(169): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19004.hp2 NA19005.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19060.hp2 NA19064.hp2 NA19068.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19081.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0004c0004t0005	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(88): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0080 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0219 a0001c0001t0003g0023 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0004g0077 a0001c0001t0005g0022 a0001c0001t0005g0029 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0007g0011 a0001c0001t0007g0163 a0001c0001t0008g0059 a0001c0001t0008g0218 a0001c0001t0008g0221 a0001c0001t0009g0053 a0001c0001t0009g0222 a0001c0001t0009g0223 a0001c0001t0011g0167 a0001c0001t0011g0187 a0001c0001t0011g0192 a0001c0001t0012g0030 a0001c0001t0013g0047 a0001c0001t0013g0132 a0001c0001t0015g0049 a0001c0001t0015g0079 a0004c0004t0005g0150	172	438	0.3927	-66	c.115 others(83): Show c.115-1094_115-1029delAATATTATTTTATTTTCCAAAGCAAAGT GTTCTTATGTTTTTTTTTCTCCCCACAGCAATTTAACC	CLDN16	ENSG00000113946.4	transcript	ENST00000264734.3	protein_coding	1/4			chr3	TogoVar
CLMP_chr11_123064872_123200248	123118986	TTTCTTTC others(59): Show TTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCCCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0176 a0001c0001t0013g0176	1	254	0.0039	-66	c.29- others(83): Show c.29-21100_29-21035delGGAGAGGGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLNS1A_chr11_77609530_77642794	77640802	AATATGGG others(59): Show AATATGGGTTGAGGAGGGCTCTGTACTTCTATATTTGAGTCCTTGTGGAT GCACTGTAACCTAAGTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	408	0.0025	-66	c.-31 others(77): Show c.-3154_-3089delAACTTAGGTTACAGTGCATCCACAAGGACTCAAA TATAGAAGTACAGAGCCCTCCTCAACCCATAT	CLNS1A	ENSG00000074201.9	transcript	ENST00000525428.6	protein_coding		3009		chr11	TogoVar
CLSTN2_chr3_139930185_140582397	140490012	ATGTGTGT others(59): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0071 a0001c0003t0003g0071	1	110	0.0091	-66	c.134 others(87): Show c.1344+23293_1344+23358delGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1311324	ATACATAT others(59): Show ATACATATATGTACATATAAAATGTCTTTATATGTACATATATGTACATA TAAAATGTCTTTATATG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0017 a0001c0007t0001g0017	1	232	0.0043	-66	c.762 others(85): Show c.762-10173_762-10108delATGTCTTTATATGTACATATATGTAC ATATAAAATGTCTTTATATGTACATATATGTACATATAAA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	147084278	CATATATG others(59): Show CATATATGCATAATGCTATATATGTATATATAATCCATATATGCATAATG CTATATATGTATATATA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0012 a0001c0018t0002g0012	1	40	0.0250	-66	c.551 others(85): Show c.551-23835_551-23770delCCATATATGCATAATGCTATATATGT ATATATAATATATGCATAATGCTATATATGTATATATAAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148365755	TATGTGTA others(59): Show TATGTGTATACGTGTATACATGTATGTGTATGCATGTATACATGCATGTG TATGCATGTATACATGC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0001 a0001c0001t0018g0001	1	40	0.0250	-66	c.347 others(87): Show c.3476-17885_3476-17820delACGTGTATACATGTATGTGTATGC ATGTATACATGCATGTGTATGCATGTATACATGCATGTGTAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COA8_chr14_103557960_103595896	103591659	GGGAGAAT others(59): Show GGGAGAATAGCATGAACCAGGGAGGTGGAGGGTGCCTGTAATCCCAGCTC CTTGGGAGGCTAAGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01168.hp2 HG01169.hp1 others(1): Show HG01106.hp2 HG01168.hp2 HG01169.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 a0001c0001t0001 a0001c0006t0001 a0002c0002t0001	a0001c0001t0001g0317 a0001c0006t0001g0078 a0001c0006t0001g0079 others(1): Show a0001c0001t0001g0317 a0001c0006t0001g0078 a0001c0006t0001g0079 a0002c0002t0001g0144	4	382	0.0105	-66	c.13 others(77): Show c.1374_*1439delGGAGAATAGCATGAACCAGGGAGGTGGAGGGTGC CTGTAATCCCAGCTCCTTGGGAGGCTAAGGCA	COA8	ENSG00000256053.9	transcript	ENST00000409074.8	protein_coding		764		chr14	TogoVar
COG1_chr17_73188055_73213507	73192818	CCGCGCCC others(59): Show CCGCGCCCGCCCCCGCGCCCGCGCCCGCCCCCGCCCCCTCGCGCCCGCCC CCTCGCGCCCGCCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0101 a0003c0005t0001g0101	1	428	0.0023	-66	c.-25 others(75): Show c.-251_-186delCGCGCCCGCCCCCGCGCCCGCGCCCGCCCCCGCCCC CTCGCGCCCGCCCCCTCGCGCCCGCCCCCT	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		236		chr17	TogoVar
COL18A1_chr21_45400165_45518720	45437480	ACACACTC others(59): Show ACACACTCACACTCACACACAGGCACTCTCCTGCACACACACACTCAGAC ACACAGGCACTCTCCTG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0112 a0001c0004t0001g0112	1	292	0.0034	-66	c.107 others(85): Show c.107-30756_107-30691delTCACACTCACACACAGGCACTCTCCT GCACACACACACTCAGACACACAGGCACTCTCCTGCACAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL26A1_chr7_101357875_101564024	101489758	CTTTCTTT others(59): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0115 a0001c0001t0008g0115	1	174	0.0058	-66	c.385 others(85): Show c.385+41973_385+42038delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A1_chr13_110143963_110312157	110252468	TTATATGT others(59): Show TTATATGTATTATATATACGTATAATTATACGTATATATGTATTATATAT ACGTATAATTATACGTA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG00741.hp2 others(26): Show HG00323.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01123.hp1 HG01192.hp2 HG01256.hp1 HG01361.hp2 HG02071.hp1 HG02135.hp2 HG02257.hp1 HG02647.hp2 HG02922.hp1 HG03209.hp1 HG03669.hp1 HG06807.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18984.hp1 NA18992.hp2 NA19056.hp1 NA19058.hp1 NA20129.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0009	a0001c0003 a0001c0007 a0001c0020 others(21): Show a0001c0003 a0001c0007 a0001c0020 a0001c0052 a0001c0066 a0001c0072 a0002c0002 a0002c0004 a0002c0011 a0002c0018 a0002c0024 a0002c0092 a0002c0096 a0003c0008 a0003c0027 a0003c0041 a0003c0049 a0003c0099 a0004c0005 a0004c0017 a0004c0021 a0004c0022 a0005c0034 a0009c0113	a0001c0003t0001 a0001c0007t0001 a0001c0020t0005 others(23): Show a0001c0003t0001 a0001c0007t0001 a0001c0020t0005 a0001c0052t0001 a0001c0066t0001 a0001c0072t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0004t0001 a0002c0011t0001 a0002c0018t0001 a0002c0024t0002 a0002c0092t0002 a0002c0096t0001 a0003c0008t0003 a0003c0027t0001 a0003c0041t0002 a0003c0049t0001 a0003c0099t0003 a0004c0005t0001 a0004c0017t0001 a0004c0021t0001 a0004c0022t0001 a0005c0034t0001 a0009c0113t0003	a0001c0003t0001g0154 a0001c0007t0001g0065 a0001c0020t0005g0123 others(26): Show a0001c0003t0001g0154 a0001c0007t0001g0065 a0001c0020t0005g0123 a0001c0052t0001g0149 a0001c0066t0001g0151 a0001c0072t0001g0141 a0002c0002t0001g0220 a0002c0002t0002g0297 a0002c0002t0003g0195 a0002c0004t0001g0260 a0002c0011t0001g0213 a0002c0018t0001g0176 a0002c0024t0002g0281 a0002c0092t0002g0341 a0002c0096t0001g0259 a0003c0008t0003g0233 a0003c0027t0001g0261 a0003c0041t0002g0300 a0003c0049t0001g0262 a0003c0099t0003g0232 a0004c0005t0001g0031 a0004c0005t0001g0056 a0004c0017t0001g0004 a0004c0021t0001g0053 a0004c0021t0001g0063 a0004c0022t0001g0048 a0004c0022t0001g0148 a0005c0034t0001g0165 a0009c0113t0003g0263	29	344	0.0843	-66	c.85- others(81): Show c.85-9800_85-9735delTACGTATAATTATACGTATATATAATACAT ATATACGTATAATTATACGTATATATAATACATATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110252972	GATAACTA others(59): Show GATAACTATAAGTACGTATGTATTACATATACAGATAACTATAAGTACGT ATGTATTACATATACAT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02451.hp2 HG02723.hp2 others(2): Show HG01081.hp1 HG02451.hp2 HG02723.hp2 HG03098.hp1 NA20129.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0015 a0002c0043 a0003c0045 others(2): Show a0002c0015 a0002c0043 a0003c0045 a0003c0089 a0004c0035	a0002c0015t0001 a0002c0043t0001 a0003c0045t0001 others(2): Show a0002c0015t0001 a0002c0043t0001 a0003c0045t0001 a0003c0089t0003 a0004c0035t0001	a0002c0015t0001g0241 a0002c0043t0001g0181 a0003c0045t0001g0198 others(2): Show a0002c0015t0001g0241 a0002c0043t0001g0181 a0003c0045t0001g0198 a0003c0089t0003g0253 a0004c0035t0001g0103	5	344	0.0145	-66	c.85- others(83): Show c.85-10304_85-10239delATGTATATGTAATACATACGTACTTATA GTTATCTGTATATGTAATACATACGTACTTATAGTTAT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355727	TAGCTCAC others(59): Show TAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTG GGGGTGGAGGGCTGTAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0025 a0025	a0025c0103 a0025c0103	a0025c0103t0004 a0025c0103t0004	a0025c0103t0004g0301 a0025c0103t0004g0301	1	372	0.0027	-66	c.100 others(83): Show c.100-1730_100-1665delTGTGGGGGAGGGCTGCACTAGCTCACCT GTGTGTGGGGGTGGAGGGCTGTACAGCTCACCTGTGTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355774	GTGGGGGT others(59): Show GTGGGGGTGGAGGGCTGTACAGCTCACCTGTGTGAGTGGGGAGGGCTGCA CTAGCTCACCTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA20129.hp1 HG03579.hp2 NA20129.hp1	a0003 a0021 a0003 a0021	a0003c0068 a0021c0053 a0003c0068 a0021c0053	a0003c0068t0024 a0021c0053t0007 a0003c0068t0024 a0021c0053t0007	a0003c0068t0024g0247 a0021c0053t0007g0241 a0003c0068t0024g0247 a0021c0053t0007g0241	2	372	0.0054	-66	c.100 others(83): Show c.100-1697_100-1632delTGGGGGTGGAGGGCTGTACAGCTCACCT GTGTGAGTGGGGAGGGCTGCACTAGCTCACCTGTGTGT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355775	TGGGGGTG others(59): Show TGGGGGTGGAGGGCTGTACAGCTCACCTGTGTGAGTGGGGAGGGCTGCAC TAGCTCACCTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02040.hp2 NA19011.hp1 others(2): Show HG00609.hp1 HG02040.hp2 NA19011.hp1 NA19063.hp1 NA19063.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0029 others(1): Show a0001c0001 a0001c0004 a0001c0029 a0004c0009	a0001c0001t0006 a0001c0004t0003 a0001c0029t0002 others(1): Show a0001c0001t0006 a0001c0004t0003 a0001c0029t0002 a0004c0009t0003	a0001c0001t0006g0047 a0001c0004t0003g0059 a0001c0029t0002g0330 others(2): Show a0001c0001t0006g0047 a0001c0004t0003g0059 a0001c0029t0002g0330 a0004c0009t0003g0062 a0004c0009t0003g0078	5	372	0.0134	-66	c.100 others(83): Show c.100-1691_100-1626delTGGAGGGCTGTACAGCTCACCTGTGTGA GTGGGGAGGGCTGCACTAGCTCACCTGTGTGTGGGGGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL6A1_chr21_45976770_46010048	46006015	GCCCGGGG others(59): Show GCCCGGGGCAGAGGCAGCGGGTGGTGGCCGGGGCCCGGGGCAGACGCAGT GAGGCGGTGGGCGGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01123.hp2 HG01192.hp1 others(6): Show HG00733.hp1 HG01123.hp2 HG01192.hp1 HG01258.hp2 HG03492.hp2 NA18983.hp1 NA19005.hp1 NA19070.hp2 NA19079.hp1	a0002 a0004 a0009 a0002 a0004 a0009	a0002c0002 a0004c0005 a0004c0030 others(1): Show a0002c0002 a0004c0005 a0004c0030 a0009c0014	a0002c0002t0001 a0004c0005t0001 a0004c0030t0001 others(1): Show a0002c0002t0001 a0004c0005t0001 a0004c0030t0001 a0009c0014t0002	a0002c0002t0001g0011 a0002c0002t0001g0054 a0002c0002t0001g0057 others(6): Show a0002c0002t0001g0011 a0002c0002t0001g0054 a0002c0002t0001g0057 a0004c0005t0001g0044 a0004c0005t0001g0045 a0004c0005t0001g0047 a0004c0005t0001g0058 a0004c0030t0001g0085 a0009c0014t0002g0087	9	128	0.0703	-66	c.20 others(77): Show c.2003_*2068delCCCGGGGCAGAGGCAGCGGGTGGTGGCCGGGGCC CGGGGCAGACGCAGTGAGGCGGTGGGCGGGGC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		968		chr21	TogoVar
COL6A1_chr21_45976770_46010048	46006162	TGAGGCGG others(59): Show TGAGGCGGTGGGAGGGGCCCGGGGCAGACGCAGTGAGGCGGTGGGCGGGG CCCGGGTCAGAGGCAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0003 a0011c0019t0003	a0011c0019t0003g0114 a0011c0019t0003g0114	1	128	0.0078	-66	c.21 others(77): Show c.2150_*2215delGAGGCGGTGGGAGGGGCCCGGGGCAGACGCAGTG AGGCGGTGGGCGGGGCCCGGGTCAGAGGCAAC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		1115		chr21	TogoVar
COL6A1_chr21_45976770_46010048	46006272	CGGGGCCC others(59): Show CGGGGCCCGGGGCAGATGCAGTGAGGCGGTGGGCGGGGCCCGGGGCAGAT GCAGTGAGGCGGTGGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG03492.hp2 NA18983.hp1 others(3): Show HG01123.hp1 HG03492.hp2 NA18983.hp1 NA19005.hp1 NA19070.hp2 NA19079.hp1	a0004 a0004	a0004c0005 a0004c0030 a0004c0005 a0004c0030	a0004c0005t0001 a0004c0030t0001 a0004c0005t0001 a0004c0030t0001	a0004c0005t0001g0041 a0004c0005t0001g0044 a0004c0005t0001g0045 others(3): Show a0004c0005t0001g0041 a0004c0005t0001g0044 a0004c0005t0001g0045 a0004c0005t0001g0047 a0004c0005t0001g0058 a0004c0030t0001g0085	6	128	0.0469	-66	c.22 others(77): Show c.2260_*2325delGGGGCCCGGGGCAGATGCAGTGAGGCGGTGGGCG GGGCCCGGGGCAGATGCAGTGAGGCGGTGGGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		1225		chr21	TogoVar
CORO7_chr16_4349542_4421596	4351115	GCCGGGCA others(59): Show GCCGGGCACGCAGGGGGCGCACGGCGCCCGCCGCCCAGCCCGGAGCTCGC CGCCCGGCCCCCGGCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0191 a0002c0001t0001g0191	1	297	0.0034	-66	c.39 others(77): Show c.3977_*4042delGGGCCGGGGGCCGGGCGGCGAGCTCCGGGCTGGG CGGCGGGCGCCGTGCGCCCCCTGCGTGCCCGG	CORO7	ENSG00000262246.6	transcript	ENST00000251166.9	protein_coding		3426		chr16	TogoVar
CREBRF_chr5_173051352_173144284	173132436	CCCTCCCC others(59): Show CCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03130.hp2 HG03516.hp2 HG02055.hp2 HG03130.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0052 a0001c0001t0008g0053 a0001c0001t0008g0054 a0001c0001t0008g0052 a0001c0001t0008g0053 a0001c0001t0008g0054	3	292	0.0103	-66	c.180 others(85): Show c.1805-1186_1805-1121delTCCCCTCCCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCTCTTTCCTCCCC	CREBRF	ENSG00000164463.12	transcript	ENST00000296953.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
CRYBA4_chr22_26616963_26635669	26627360	CTTTCTTT others(59): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	402	0.0025	-66	c.301 others(81): Show c.301-907_301-842delTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTC	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CSMD1_chr8_2930361_4999914	4295259	TATATAAT others(59): Show TATATAATCTTAAGATTATATGCACATATAATCTTAAGATTATCTATATA ATCTTAAGATTATGCAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp1 HG03710.hp2 others(2): Show HG01243.hp2 HG02258.hp1 HG03710.hp2 NA19060.hp1 NA19074.hp2	a0001 a0022 a0035 a0001 a0022 a0035	a0001c0007 a0001c0090 a0001c0114 others(2): Show a0001c0007 a0001c0090 a0001c0114 a0022c0013 a0035c0098	a0001c0007t0001 a0001c0090t0001 a0001c0114t0003 others(2): Show a0001c0007t0001 a0001c0090t0001 a0001c0114t0003 a0022c0013t0007 a0035c0098t0025	a0001c0007t0001g0035 a0001c0090t0001g0027 a0001c0114t0003g0119 others(2): Show a0001c0007t0001g0035 a0001c0090t0001g0027 a0001c0114t0003g0119 a0022c0013t0007g0112 a0035c0098t0025g0019	5	126	0.0397	-66	c.415 others(87): Show c.415+124628_415+124693delGTGCATAATCTTAAGATTATATAG ATAATCTTAAGATTATATGTGCATATAATCTTAAGATTATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542606	ATATATAT others(59): Show ATATATATATATATATATATATATATATATATATGTATATATATATATAT ATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	390	0.0026	-66	c.230 others(83): Show c.230+7403_230+7468delCATATATATATATATATATATATATATA TATACATATATATATATATATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CTDP1_chr18_79674803_79759503	79713932	CGCCAGGT others(59): Show CGCCAGGTCTGCAGGGGCTTACGGCCACGGTGGCGCCAGGTCTGCAGGGG CTTACGGCCACGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	378	0.0027	-66	c.103 others(83): Show c.1031-517_1031-452delTGCAGGGGCTTACGGCCACGGTGGTGCC AGGTCTGCAGGGGCTTACGGCCACGGTGGCGCCAGGTC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79742081	AGAGGCCT others(59): Show AGAGGCCTGGGGGCAGCAGAGGAGGCATGAGGTGGAGGCCTGGGGGCAGC AGAGGAGGCATGAGGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0092 a0001c0013t0001g0092	1	378	0.0027	-66	c.274 others(85): Show c.2747+5583_2747+5648delGGCATGAGGTGGAGGCCTGGGGGCAG CAGAGGAGGCATGAGGTGGAGGCCTGGGGGCAGCAGAGGA	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CYP24A1_chr20_54148446_54178986	54178452	TTGATTAT others(59): Show TTGATTATTTCCTCATTCCCAAGTGAAAAGGAGAAAGGTTAGTATCAATG TATTCTTTGTTTTCTGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0036 a0001c0002t0003g0036	1	456	0.0022	-66	c.-49 others(77): Show c.-4939_-4874delTCAGAAAACAAAGAATACATTGATACTAACCTTT CTCCTTTTCACTTGGGAATGAGGAAATAATCA	CYP24A1	ENSG00000019186.10	transcript	ENST00000216862.8	protein_coding		4467		chr20	TogoVar
CYP4F3_chr19_15635897_15667825	15639764	GTGGCACA others(59): Show GTGGCACACAGTAGGCACTCTATGAGGAATATCAGGAACTGAGTATACAG GGTTAATGTAGAGCACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG00741.hp2 others(28): Show HG00639.hp1 HG00642.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01192.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG01978.hp1 HG02602.hp1 HG02818.hp1 HG02886.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03927.hp2 NA18945.hp1 NA18953.hp1 NA18960.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18972.hp1 NA18978.hp2 NA18994.hp1 NA19002.hp1 NA19070.hp1 NA19084.hp1	a0001 a0013 a0001 a0013	a0001c0005 a0013c0015 a0001c0005 a0013c0015	a0001c0005t0004 a0001c0005t0032 a0001c0005t0073 others(2): Show a0001c0005t0004 a0001c0005t0032 a0001c0005t0073 a0001c0005t0076 a0013c0015t0004	a0001c0005t0004g0002 a0001c0005t0004g0003 a0001c0005t0004g0012 others(26): Show a0001c0005t0004g0002 a0001c0005t0004g0003 a0001c0005t0004g0012 a0001c0005t0004g0014 a0001c0005t0004g0015 a0001c0005t0004g0016 a0001c0005t0004g0017 a0001c0005t0004g0019 a0001c0005t0004g0020 a0001c0005t0004g0021 a0001c0005t0004g0022 a0001c0005t0004g0023 a0001c0005t0004g0024 a0001c0005t0004g0025 a0001c0005t0004g0026 a0001c0005t0004g0027 a0001c0005t0004g0028 a0001c0005t0004g0029 a0001c0005t0004g0030 a0001c0005t0004g0032 a0001c0005t0004g0034 a0001c0005t0004g0036 a0001c0005t0004g0037 a0001c0005t0004g0041 a0001c0005t0004g0042 a0001c0005t0032g0035 a0001c0005t0073g0033 a0001c0005t0076g0031 a0013c0015t0004g0013	31	424	0.0731	-66	c.-11 others(77): Show c.-1182_-1117delTGGCACACAGTAGGCACTCTATGAGGAATATCAG GAACTGAGTATACAGGGTTAATGTAGAGCACC	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding		1132		chr19	TogoVar
D2HGDH_chr2_241729630_241773811	241731559	CCTCGCTG others(59): Show CCTCGCTGGAAGAGGAGGCTGAGATGCTGGGGGAAGGCCCCACAACGCCG AAACCAGCACCTGCCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01496.hp1 HG02258.hp1 others(4): Show HG01109.hp1 HG01496.hp1 HG02258.hp1 HG02615.hp1 HG02622.hp2 HG03041.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0009 others(1): Show a0001c0001 a0002c0002 a0002c0009 a0002c0032	a0001c0001t0052 a0002c0002t0002 a0002c0002t0013 others(3): Show a0001c0001t0052 a0002c0002t0002 a0002c0002t0013 a0002c0002t0015 a0002c0009t0008 a0002c0032t0015	a0001c0001t0052g0162 a0002c0002t0002g0155 a0002c0002t0013g0152 others(4): Show a0001c0001t0052g0162 a0002c0002t0002g0155 a0002c0002t0013g0152 a0002c0002t0015g0135 a0002c0009t0008g0136 a0002c0009t0008g0153 a0002c0032t0015g0076	7	412	0.0170	-66	c.-32 others(77): Show c.-3228_-3163delCTCGCTGGAAGAGGAGGCTGAGATGCTGGGGGAA GGCCCCACAACGCCGAAACCAGCACCTGCCAT	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding		3070		chr2	TogoVar
DACT2_chr6_168301904_168324777	168321859	TCCTCTCC others(59): Show TCCTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG02895.hp1 HG02976.hp2 others(8): Show HG00609.hp1 HG02895.hp1 HG02976.hp2 HG03041.hp2 HG03225.hp1 NA18906.hp2 NA18945.hp1 NA18971.hp1 NA18985.hp1 NA19074.hp1 NA19091.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0002c0015 others(1): Show a0001c0001 a0002c0003 a0002c0015 a0004c0006	a0001c0001t0002 a0002c0003t0003 a0002c0015t0004 others(1): Show a0001c0001t0002 a0002c0003t0003 a0002c0015t0004 a0004c0006t0003	a0001c0001t0002g0006 a0001c0001t0002g0139 a0001c0001t0002g0146 others(6): Show a0001c0001t0002g0006 a0001c0001t0002g0139 a0001c0001t0002g0146 a0001c0001t0002g0181 a0002c0003t0003g0012 a0002c0003t0003g0024 a0002c0015t0004g0167 a0004c0006t0003g0023 a0004c0006t0003g0172	11	476	0.0231	-66	c.-22 others(77): Show c.-2292_-2227delGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAGG	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding		2083		chr6	TogoVar
DAPK1_chr9_87492867_87713634	87653057	CCACCTGA others(59): Show CCACCTGATCCCAGGTCCTGATTCTGTGTCCATCCCCCCGATCCCGGGTC CTGATTCTGTGTTCTCT	C C	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	236	0.0042	-66	c.182 others(85): Show c.1824+1377_1824+1442delCGGGTCCTGATTCTGTGTTCTCTCAC CTGATCCCAGGTCCTGATTCTGTGTCCATCCCCCCGATCC	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	17/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPL1_chr2_158790317_158820990	158791925	TTCTCTCT others(59): Show TTCTCTCTTTCTTTCTTTCTCTCTTTCTTTCTTTCTCTCTTTCTTTCTTT CTTTCTTTCTTTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02293.hp1 HG02074.hp1 HG02293.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0009 a0003c0004t0002g0066 a0003c0004t0002g0009 a0003c0004t0002g0066	2	360	0.0056	-66	c.-34 others(77): Show c.-3447_-3382delTCTCTCTTTCTTTCTTTCTCTCTTTCTTTCTTTC TCTCTTTCTTTCTTTCTTTCTTTCTTTCTCTC	DAPL1	ENSG00000163331.12	transcript	ENST00000309950.8	protein_coding		3391		chr2	TogoVar
DGKG_chr3_186142201_186367234	186302472	ATATATAT others(59): Show ATATATATATATATATATATATATATATATATATACATATGTGTATATAT ATATATATATACATATG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA21309.hp1 HG03041.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0008 a0002c0001t0040 a0001c0002t0008 a0002c0001t0040	a0001c0002t0008g0228 a0002c0001t0040g0227 a0001c0002t0008g0228 a0002c0001t0040g0227	2	234	0.0086	-66	c.145 others(83): Show c.145-4309_145-4244delCATATGTATATATATATATATATACACA TATGTATATATATATATATATATATATATATATATATA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	3/24			chr3	TogoVar
DGKG_chr3_186142201_186367234	186302493	TATATATA others(59): Show TATATATATATATACATATGTGTATATATATATATATATACATATGTATA TATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp1 others(30): Show HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01168.hp2 HG01515.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02559.hp2 HG02922.hp2 HG02965.hp2 HG03195.hp1 HG03490.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp2 NA19003.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0002 a0001c0003 a0001c0012 others(5): Show a0001c0002 a0001c0003 a0001c0012 a0002c0001 a0002c0005 a0003c0004 a0004c0008 a0008c0021	a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 others(25): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0014 a0001c0002t0015 a0001c0002t0018 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0012t0011 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0005 a0002c0001t0022 a0002c0001t0034 a0002c0001t0039 a0002c0005t0002 a0002c0005t0004 a0002c0005t0005 a0002c0005t0009 a0002c0005t0010 a0003c0004t0020 a0004c0008t0009 a0008c0021t0004	a0001c0002t0001g0083 a0001c0002t0003g0165 a0001c0002t0007g0018 others(30): Show a0001c0002t0001g0083 a0001c0002t0003g0165 a0001c0002t0007g0018 a0001c0002t0008g0214 a0001c0002t0009g0187 a0001c0002t0010g0188 a0001c0002t0010g0215 a0001c0002t0014g0213 a0001c0002t0015g0071 a0001c0002t0018g0105 a0001c0003t0001g0025 a0001c0003t0003g0184 a0001c0003t0004g0039 a0001c0012t0011g0224 a0002c0001t0001g0014 a0002c0001t0002g0063 a0002c0001t0002g0080 a0002c0001t0002g0100 a0002c0001t0004g0101 a0002c0001t0005g0062 a0002c0001t0005g0082 a0002c0001t0022g0189 a0002c0001t0034g0070 a0002c0001t0039g0203 a0002c0005t0002g0115 a0002c0005t0004g0019 a0002c0005t0004g0042 a0002c0005t0005g0044 a0002c0005t0009g0186 a0002c0005t0010g0192 a0003c0004t0020g0058 a0004c0008t0009g0185 a0008c0021t0004g0054	33	234	0.1410	-66	c.145 others(83): Show c.145-4330_145-4265delGTATATATATATATATATATACATATGT ATATATATATATATATACACATATGTATATATATATAT	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	3/24			chr3	TogoVar
DGKK_chrX_50360409_50475825	50447343	TTATATAT others(59): Show TTATATATATATATAATATATATATATTATATATATATATAATATATATA TATTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0144 a0001c0002t0001g0144	1	248	0.0040	-66	c.645 others(85): Show c.645+22625_645+22690delTATATATATATATAATATATATATAT TATATATATATATAATATATATATATTATATATATATATA	DGKK	ENSG00000274588.2	transcript	ENST00000611977.2	protein_coding	1/27			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2393767	TGGGCACA others(59): Show TGGGCACACAACACCCAGGGACCTCCCTGTCTCCTGCACACACGACACAC AGGGACCTCCCCGTCTC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18943.hp1 NA19005.hp1 others(1): Show HG00673.hp1 NA18943.hp1 NA19005.hp1 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0002c0002t0003g0002	4	50	0.0800	-66	c.286 others(85): Show c.286+14912_286+14977delGAGACGGGGAGGTCCCTGTGTGTCGT GTGTGCAGGAGACAGGGAGGTCCCTGGGTGTTGTGTGCCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DIP2C_chr10_269201_694668	336912	GTGTGTGT others(59): Show GTGTGTGTGTTGTGGAGGCCTAGACTGGTGTGTGCGCGTGTGTGTGTGTT GTGGAGGCCTAGGCAGC	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02004.hp2 HG02071.hp1 HG01952.hp2 HG02004.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0028 a0001c0008t0001g0018 a0001c0008t0001g0019 a0001c0001t0001g0028 a0001c0008t0001g0018 a0001c0008t0001g0019	3	88	0.0341	-66	c.358 others(85): Show c.3584+4221_3584+4286delGCTGCCTAGGCCTCCACAACACACAC ACACGCGCACACACCAGTCTAGGCCTCCACAACACACACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	29/36			chr10	TogoVar
DIPK2A_chr3_143966823_143997368	143978603	TATATATA others(59): Show TATATATATATATCTATATCTATATATATATATATATCTATATATATATA TATATATCTATATATAG	T T	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0202 a0001c0002t0002g0202	1	408	0.0025	-66	c.657 others(83): Show c.657+5633_657+5698delCTATATATATATATATATCTATATATAT ATATATATATCTATATATAGATATATATATATCTATAT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DIPK2A_chr3_143966823_143997368	143978622	CTATATAT others(59): Show CTATATATATATATATATCTATATATATATATATATATCTATATATAGAT ATATATATATCTATATA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	408	0.0025	-66	c.657 others(83): Show c.657+5648_657+5713delTATCTATATATATATATATATATCTATA TATAGATATATATATATCTATATATATATATATATATA	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar

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