Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC28A1_chr15_84879662_84950798	84918803	GGAATCCT others(125): Show GGAATCCTTTGCTCCTGAGGCCCATACCTTCCCAGAATCCCCAACTCTTA GAGTTCACACCTTCCTAGAATCCCTTGCTTCTGAAGTCCATATCTTCCCT GAACCCCTGGCTCTTAGAGTTCACACCTTCCTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(249): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19003.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0011 a0013 a0014 a0015 a0016 a0017 a0019 a0020	a0001c0002 a0001c0004 a0001c0008 others(36): Show a0001c0002 a0001c0004 a0001c0008 a0001c0012 a0001c0020 a0001c0021 a0002c0005 a0002c0007 a0002c0009 a0002c0018 a0002c0026 a0002c0035 a0002c0039 a0002c0051 a0002c0053 a0003c0001 a0003c0014 a0003c0019 a0004c0003 a0004c0024 a0006c0011 a0006c0016 a0007c0010 a0007c0036 a0007c0049 a0007c0052 a0008c0013 a0008c0027 a0008c0041 a0009c0017 a0011c0030 a0011c0042 a0013c0034 a0014c0031 a0015c0033 a0016c0048 a0017c0040 a0019c0058 a0020c0045	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(51): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0003 a0001c0008t0001 a0001c0008t0002 a0001c0012t0001 a0001c0020t0003 a0001c0021t0001 a0002c0005t0001 a0002c0005t0002 a0002c0007t0001 a0002c0007t0002 a0002c0007t0011 a0002c0009t0001 a0002c0018t0001 a0002c0018t0005 a0002c0026t0001 a0002c0035t0002 a0002c0039t0001 a0002c0051t0002 a0002c0053t0001 a0003c0001t0001 a0003c0001t0002 a0003c0014t0001 a0003c0019t0003 a0003c0019t0005 a0004c0003t0001 a0004c0003t0002 a0004c0003t0007 a0004c0003t0016 a0004c0024t0001 a0006c0011t0003 a0006c0016t0001 a0007c0010t0001 a0007c0010t0002 a0007c0010t0007 a0007c0010t0010 a0007c0036t0002 a0007c0049t0001 a0007c0052t0001 a0008c0013t0001 a0008c0027t0001 a0008c0041t0001 a0009c0017t0001 a0011c0030t0001 a0011c0042t0001 a0013c0034t0001 a0014c0031t0006 a0015c0033t0001 a0016c0048t0001 a0017c0040t0001 a0019c0058t0001 a0020c0045t0001	a0001c0002t0001g0005 a0001c0002t0001g0025 a0001c0002t0001g0060 others(248): Show a0001c0002t0001g0005 a0001c0002t0001g0025 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0081 a0001c0002t0001g0086 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0130 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0313 a0001c0002t0002g0002 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0004t0001g0187 a0001c0004t0001g0240 a0001c0004t0001g0246 a0001c0004t0001g0369 a0001c0004t0001g0380 a0001c0004t0001g0383 a0001c0004t0001g0384 a0001c0004t0001g0385 a0001c0004t0003g0007 a0001c0004t0003g0107 a0001c0008t0001g0051 a0001c0008t0001g0053 a0001c0008t0001g0089 a0001c0008t0001g0165 a0001c0008t0001g0166 a0001c0008t0001g0358 a0001c0008t0002g0214 a0001c0008t0002g0217 a0001c0008t0002g0219 a0001c0008t0002g0222 a0001c0008t0002g0223 a0001c0008t0002g0226 a0001c0008t0002g0228 a0001c0008t0002g0233 a0001c0012t0001g0037 a0001c0012t0001g0038 a0001c0012t0001g0039 a0001c0012t0001g0040 a0001c0012t0001g0379 a0001c0020t0003g0252 a0001c0020t0003g0318 a0001c0020t0003g0356 a0001c0021t0001g0259 a0002c0005t0001g0058 a0002c0005t0001g0109 a0002c0005t0001g0110 a0002c0005t0001g0321 a0002c0005t0001g0322 a0002c0005t0001g0344 a0002c0005t0001g0360 a0002c0005t0002g0177 a0002c0005t0002g0185 a0002c0005t0002g0186 a0002c0005t0002g0192 a0002c0005t0002g0202 a0002c0005t0002g0235 a0002c0007t0001g0175 a0002c0007t0002g0179 a0002c0007t0002g0184 a0002c0007t0002g0191 a0002c0007t0002g0198 a0002c0007t0002g0199 a0002c0007t0002g0200 a0002c0007t0002g0204 a0002c0007t0002g0205 a0002c0007t0002g0208 a0002c0007t0002g0236 a0002c0007t0002g0237 a0002c0007t0002g0238 a0002c0007t0002g0243 a0002c0007t0002g0249 a0002c0007t0011g0247 a0002c0009t0001g0016 a0002c0018t0001g0010 a0002c0018t0001g0044 a0002c0018t0001g0045 a0002c0018t0001g0046 a0002c0018t0005g0034 a0002c0026t0001g0106 a0002c0035t0002g0210 a0002c0035t0002g0248 a0002c0039t0001g0268 a0002c0039t0001g0269 a0002c0051t0002g0197 a0002c0053t0001g0271 a0003c0001t0001g0027 a0003c0001t0001g0028 a0003c0001t0001g0062 a0003c0001t0001g0065 a0003c0001t0001g0099 a0003c0001t0001g0101 a0003c0001t0001g0102 a0003c0001t0001g0104 a0003c0001t0001g0111 a0003c0001t0001g0114 a0003c0001t0001g0116 a0003c0001t0001g0117 a0003c0001t0001g0121 a0003c0001t0001g0127 a0003c0001t0001g0128 a0003c0001t0001g0134 a0003c0001t0001g0135 a0003c0001t0001g0136 a0003c0001t0001g0140 a0003c0001t0001g0141 a0003c0001t0001g0143 a0003c0001t0001g0144 a0003c0001t0001g0145 a0003c0001t0001g0146 a0003c0001t0001g0151 a0003c0001t0001g0152 a0003c0001t0001g0153 a0003c0001t0001g0154 a0003c0001t0001g0171 a0003c0001t0001g0174 a0003c0001t0001g0251 a0003c0001t0001g0253 a0003c0001t0001g0314 a0003c0001t0001g0315 a0003c0001t0001g0316 a0003c0001t0001g0317 a0003c0001t0001g0320 a0003c0001t0001g0331 a0003c0001t0001g0335 a0003c0001t0001g0338 a0003c0001t0001g0339 a0003c0001t0001g0340 a0003c0001t0001g0342 a0003c0001t0001g0363 a0003c0001t0001g0370 a0003c0001t0001g0388 a0003c0001t0002g0092 a0003c0001t0002g0098 a0003c0001t0002g0149 a0003c0001t0002g0201 a0003c0001t0002g0207 a0003c0001t0002g0216 a0003c0001t0002g0229 a0003c0001t0002g0230 a0003c0001t0002g0232 a0003c0001t0002g0308 a0003c0014t0001g0129 a0003c0014t0001g0131 a0003c0014t0001g0142 a0003c0014t0001g0147 a0003c0014t0001g0148 a0003c0014t0001g0155 a0003c0014t0001g0306 a0003c0019t0003g0100 a0003c0019t0005g0003 a0004c0003t0001g0047 a0004c0003t0001g0049 a0004c0003t0001g0052 a0004c0003t0001g0054 a0004c0003t0001g0063 a0004c0003t0001g0064 a0004c0003t0001g0072 a0004c0003t0001g0076 a0004c0003t0001g0078 a0004c0003t0001g0079 a0004c0003t0001g0090 a0004c0003t0001g0112 a0004c0003t0001g0122 a0004c0003t0001g0167 a0004c0003t0001g0169 a0004c0003t0001g0276 a0004c0003t0001g0330 a0004c0003t0001g0353 a0004c0003t0001g0354 a0004c0003t0001g0355 a0004c0003t0001g0357 a0004c0003t0002g0213 a0004c0003t0002g0215 a0004c0003t0002g0218 a0004c0003t0002g0234 a0004c0003t0002g0239 a0004c0003t0007g0119 a0004c0003t0007g0124 a0004c0003t0007g0125 a0004c0003t0016g0359 a0004c0024t0001g0382 a0006c0011t0003g0048 a0006c0011t0003g0292 a0006c0011t0003g0298 a0006c0011t0003g0303 a0006c0011t0003g0304 a0006c0011t0003g0310 a0006c0011t0003g0311 a0006c0011t0003g0319 a0006c0016t0001g0123 a0006c0016t0001g0172 a0006c0016t0001g0327 a0006c0016t0001g0328 a0006c0016t0001g0329 a0006c0016t0001g0332 a0007c0010t0001g0069 a0007c0010t0001g0070 a0007c0010t0001g0343 a0007c0010t0001g0347 a0007c0010t0002g0176 a0007c0010t0002g0189 a0007c0010t0002g0190 a0007c0010t0002g0193 a0007c0010t0002g0203 a0007c0010t0007g0085 a0007c0010t0010g0196 a0007c0036t0002g0178 a0007c0049t0001g0288 a0007c0052t0001g0084 a0008c0013t0001g0055 a0008c0013t0001g0057 a0008c0013t0001g0088 a0008c0013t0001g0108 a0008c0013t0001g0118 a0008c0013t0001g0120 a0008c0013t0001g0156 a0008c0013t0001g0305 a0008c0027t0001g0150 a0008c0027t0001g0307 a0008c0041t0001g0056 a0009c0017t0001g0293 a0009c0017t0001g0294 a0009c0017t0001g0299 a0011c0030t0001g0300 a0011c0030t0001g0312 a0011c0042t0001g0113 a0013c0034t0001g0351 a0013c0034t0001g0352 a0014c0031t0006g0333 a0014c0031t0006g0334 a0015c0033t0001g0181 a0016c0048t0001g0074 a0017c0040t0001g0273 a0019c0058t0001g0325 a0020c0045t0001g0168	252	396	0.6364	-132	c.876 others(15): Show c.876+232_876+363del	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC2A13_chr12_39750025_40111081	39895687	TATGTATA others(125): Show TATGTATATGCGTGTATACGTACACACATATGTATATGCGTGTATACGTA CACACATGTATATGCGTGTATACGTACACACATGTATATGCGTGTATACG TACACACATGTATATGCGTGTATACGTACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01928.hp1 HG02970.hp2 others(3): Show HG01109.hp2 HG01928.hp1 HG02970.hp2 NA18973.hp2 NA18985.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0053 a0001c0001t0001g0078 a0001c0001t0001g0079 others(3): Show a0001c0001t0001g0053 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0003g0204	6	214	0.0280	-132	c.103 others(21): Show c.1035-23858_1035-23727del	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	4/9			chr12	TogoVar
SLC39A14_chr8_22362278_22427736	22396385	TAGAGAGA others(125): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGGGAGAGAGAGAGAG AGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02165.hp1 HG02280.hp1 HG01175.hp1 HG02165.hp1 HG02280.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0003c0001 a0001c0003 a0001c0004 a0003c0001	a0001c0003t0004 a0001c0004t0001 a0003c0001t0001 a0001c0003t0004 a0001c0004t0001 a0003c0001t0001	a0001c0003t0004g0056 a0001c0004t0001g0150 a0003c0001t0001g0075 a0001c0003t0004g0056 a0001c0004t0001g0150 a0003c0001t0001g0075	3	324	0.0093	-132	c.-15 others(17): Show c.-15-8294_-15-8163del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC9A3_chr5_465456_529449	497701	ATCTGCCC others(125): Show ATCTGCCCCTGTCCTGGGTGGGGTCGCCCGGCCGCATCCCCAGCCTCTGC CCCTGTCCCGGGTGGGGTCGCCCGGCCGCATCCCCAGCCTCTGCCCCTGT CCCGGGTGGGGTCGCCCGGCCGCATCCCCAGCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG00597.hp1 others(61): Show HG00099.hp1 HG00558.hp1 HG00597.hp1 HG00735.hp1 HG01099.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01257.hp1 HG01261.hp1 HG01361.hp2 HG01891.hp1 HG01993.hp1 HG01993.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02895.hp1 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03688.hp2 HG03831.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA19000.hp2 NA19002.hp1 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19074.hp2 NA19081.hp1 NA19085.hp1 NA19088.hp2 NA20129.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0003 a0001c0007 others(11): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0001c0026 a0001c0030 a0002c0002 a0002c0004 a0002c0005 a0002c0006 a0002c0010 a0002c0011 a0005c0012 a0007c0022	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(24): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0031 a0001c0003t0008 a0001c0007t0001 a0001c0007t0005 a0001c0007t0012 a0001c0009t0008 a0001c0026t0012 a0001c0030t0008 a0002c0002t0002 a0002c0002t0003 a0002c0002t0020 a0002c0004t0006 a0002c0004t0015 a0002c0004t0025 a0002c0005t0006 a0002c0006t0006 a0002c0006t0026 a0002c0010t0003 a0002c0010t0028 a0002c0011t0002 a0002c0011t0003 a0005c0012t0013 a0007c0022t0005	a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0051 others(60): Show a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0004g0055 a0001c0001t0005g0166 a0001c0001t0005g0180 a0001c0001t0005g0190 a0001c0001t0014g0060 a0001c0001t0014g0061 a0001c0001t0031g0198 a0001c0003t0008g0152 a0001c0007t0001g0043 a0001c0007t0001g0045 a0001c0007t0005g0187 a0001c0007t0012g0176 a0001c0009t0008g0151 a0001c0026t0012g0212 a0001c0030t0008g0150 a0002c0002t0002g0034 a0002c0002t0002g0049 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0096 a0002c0002t0002g0098 a0002c0002t0002g0145 a0002c0002t0002g0148 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0003g0168 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0186 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0196 a0002c0002t0003g0199 a0002c0002t0003g0202 a0002c0002t0003g0206 a0002c0002t0003g0211 a0002c0002t0003g0217 a0002c0002t0020g0115 a0002c0004t0006g0173 a0002c0004t0006g0209 a0002c0004t0015g0037 a0002c0004t0015g0133 a0002c0004t0025g0143 a0002c0005t0006g0213 a0002c0005t0006g0214 a0002c0005t0006g0215 a0002c0006t0006g0001 a0002c0006t0006g0177 a0002c0006t0006g0178 a0002c0006t0026g0047 a0002c0010t0003g0201 a0002c0010t0028g0189 a0002c0011t0002g0011 a0002c0011t0003g0195 a0005c0012t0013g0054 a0005c0012t0013g0132 a0007c0022t0005g0210	64	218	0.2936	-132	c.212 others(17): Show c.212-5762_212-5631del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	497715	TGGGTGGG others(125): Show TGGGTGGGGTCGCCCGGCCGCATCCCCAGCCTCTGCCCCTGTCCCGGGTG GGGTCGCCCGGCCGCATCCCCAGCCTCTGCCCCTGTCCCGGGTGGGGTCG CCCGGCCGCATCCCCAGCCTCTGCCCCTGTCCC	T T	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0149 a0002c0002t0002g0149	1	218	0.0046	-132	c.212 others(17): Show c.212-5776_212-5645del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	92161799	GTAGAACA others(125): Show GTAGAACACCACACACAGTATGCCGGCGCTTTGCAGTTTCCTCTGTGGAA CACCACACACAGTATGCCGGCGCTTTGCAGTTTCCTCTGTGGAACACCAC ACACAGTATGCCGGCGCTTTGCAGTTTCCTCTA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0040 a0001c0001t0027g0040	1	190	0.0053	-132	c.175 others(17): Show c.1754-955_1754-824del	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMYD3_chr1_245744347_246512279	246002522	GTTAGCCA others(125): Show GTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGACCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00738.hp1 HG01109.hp2 others(14): Show HG00423.hp1 HG00738.hp1 HG01109.hp2 HG02056.hp2 HG02071.hp2 HG02132.hp2 HG02257.hp2 HG02615.hp2 HG02622.hp2 HG02895.hp1 HG03130.hp2 HG03225.hp1 NA18747.hp2 NA18971.hp1 NA19057.hp2 NA19086.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0012 others(3): Show a0001c0001 a0001c0002 a0001c0012 a0001c0014 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0012t0002 a0001c0014t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001	a0001c0001t0001g0038 a0001c0001t0001g0055 a0001c0001t0001g0067 others(14): Show a0001c0001t0001g0038 a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0001g0093 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0002t0001g0020 a0001c0002t0002g0010 a0001c0002t0002g0070 a0001c0012t0002g0074 a0001c0014t0002g0091 a0002c0003t0001g0111 a0002c0003t0001g0133 a0002c0003t0002g0131 a0002c0004t0001g0098 a0002c0004t0001g0140 a0002c0004t0001g0149	17	150	0.1133	-132	c.532 others(19): Show c.532-72717_532-72586del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1317096	AGGCCAGC others(125): Show AGGCCAGCATTGGAGAAGGTTGGGATTCTGGAGCATTGAGCATCAGGCCA GCATTGGAGAAGGCTGGGATTCTGGAACATTTAGCATGAGGCCAGCATTG GAGAAGGTTGGGATTCTGGAACATTTAGCGTCC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0108 a0003c0007t0001g0108	1	190	0.0053	-132	c.148 others(17): Show c.1488+758_1488+889del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX16_chr8_81794583_81847185	81842452	GGGCAAGA others(125): Show GGGCAAGAGCGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAAAGAGAAAGAAAACGAGCGAGGGAGA GAGCGAGAGCGAGAGAGAGAGAGAGAGAGCGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	306	0.0033	-132	c.-55 others(9): Show c.-559_-428del	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding		268		chr8	TogoVar
SORCS2_chr4_7187538_7747827	7453329	TGTGTTGG others(125): Show TGTGTTGGGGTCAGGCACTGTGCTGGGGTCAGGAGCTGTGTGTTGGGGTC AGGCACTGTGTTGGGGTCAGGAGCTGTGTGTTGGGGTCAGGAGCTGTGTG TTGGGGTCAGGTGCTGTGTTGGGGTCAGGCTCC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0076 a0001c0010t0076	a0001c0010t0076g0163 a0001c0010t0076g0163	1	168	0.0060	-132	c.548 others(19): Show c.548+56990_548+57121del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPINK4_chr9_33235167_33253567	33251886	GAGAAGGG others(125): Show GAGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGAAGAAGGGGTGCTCTCT CCCCTTCTCACGGGAGAAGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGA AGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01243.hp2 HG01884.hp2 others(9): Show HG00280.hp2 HG01243.hp2 HG01884.hp2 HG02622.hp2 HG02895.hp2 HG03130.hp1 NA18612.hp2 NA18906.hp1 NA18968.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0045 a0002c0002t0002g0003 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0045 a0002c0002t0002g0003 a0002c0002t0002g0014 a0002c0002t0002g0017 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0025	12	378	0.0318	-132	c.34 others(11): Show c.3416_*3547del	SPINK4	ENSG00000122711.9	transcript	ENST00000379721.4	protein_coding		3320		chr9	TogoVar
SPIRE2_chr16_89823475_89876319	89834092	GCGGTTGG others(125): Show GCGGTTGGCCGTCGTAGAAGCATGGATAAGCATAGCCCGTGTGAATCTGT GAACCTGCCTGCGCTCGCGGTTGGCCGTCGTAGAAGCCTGGATAAGCATA GCCCGTGTGAATCTGTGAACCTGCCTGTGCTCA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0009 a0001c0008t0001g0009	1	356	0.0028	-132	c.244 others(17): Show c.244+5357_244+5488del	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89835016	GCGGTTGG others(125): Show GCGGTTGGCCGTCGTAGAAGCGTGGATAAGCATAGCCCGTGTGAATCTGT GAACCTGCCCGCACTCGCAGTTGGCCGTCGTAGAAGCCTAGATAAGCATA GCCCGTGTGAATCTGTGAACCTGCCCGCACTCA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0317 a0001c0019t0001g0317	1	356	0.0028	-132	c.244 others(17): Show c.244+6281_244+6412del	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89848878	CGGCGTTT others(125): Show CGGCGTTTCTGCAGGACAGATGAGGCAGGTTCCAGGGCCTTCTGCAGTGT TTCTGCAGGACAGACGAGGCAGGTTCCAGGGCCTTCTGTGGTGTTTCTGC AGGACAGACGAGGCAGGTTCCAGGGCCTTCTGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00597.hp2 others(29): Show HG00323.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG01175.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp2 HG02165.hp1 HG03139.hp1 HG03491.hp2 HG03492.hp1 NA18612.hp1 NA18940.hp1 NA18943.hp1 NA18947.hp2 NA18954.hp2 NA18960.hp1 NA18967.hp1 NA18982.hp1 NA18984.hp2 NA18990.hp1 NA18994.hp1 NA19062.hp1 NA19070.hp1 NA19074.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0012 a0013 a0014	a0001c0019 a0002c0002 a0005c0007 others(4): Show a0001c0019 a0002c0002 a0005c0007 a0005c0014 a0012c0013 a0013c0025 a0014c0015	a0001c0019t0001 a0002c0002t0002 a0002c0002t0014 others(5): Show a0001c0019t0001 a0002c0002t0002 a0002c0002t0014 a0005c0007t0002 a0005c0014t0002 a0012c0013t0002 a0013c0025t0002 a0014c0015t0002	a0001c0019t0001g0317 a0002c0002t0002g0022 a0002c0002t0002g0023 others(29): Show a0001c0019t0001g0317 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0040 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0053 a0002c0002t0014g0044 a0005c0007t0002g0032 a0005c0007t0002g0036 a0005c0007t0002g0041 a0005c0007t0002g0052 a0005c0014t0002g0021 a0012c0013t0002g0033 a0013c0025t0002g0039 a0014c0015t0002g0049	32	356	0.0899	-132	c.289 others(17): Show c.289-1406_289-1275del	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
STARD13_chr13_33098137_33290755	33177854	GAAGGAAG others(125): Show GAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01256.hp2 HG01258.hp2 others(10): Show HG00323.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG02280.hp1 HG02723.hp2 HG02976.hp2 HG03225.hp1 HG03654.hp2 NA19005.hp2 NA19010.hp1 NA19240.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0014	a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0002g0117 others(10): Show a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0002g0117 a0001c0002t0001g0084 a0001c0002t0001g0097 a0001c0002t0002g0122 a0001c0002t0002g0211 a0001c0002t0002g0257 a0001c0002t0002g0259 a0001c0002t0002g0291 a0001c0004t0001g0125 a0001c0004t0002g0044 a0001c0004t0014g0006	13	302	0.0431	-132	c.170 others(19): Show c.170-10364_170-10233del	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STARD13_chr13_33098137_33290755	33177879	GAAGGAAG others(125): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19030.hp2 HG01891.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0002 a0001c0005t0005 a0001c0004t0002 a0001c0005t0005	a0001c0004t0002g0011 a0001c0005t0005g0162 a0001c0004t0002g0011 a0001c0005t0005g0162	2	302	0.0066	-132	c.170 others(19): Show c.170-10389_170-10258del	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STX16_chr20_58646283_58684526	58648334	CGTGCTGC others(125): Show CGTGCTGCCTTTGGGGCCTGGTCAGAGCTGCACGGTGCTGCCTTTGGGGC CTGGTCAGAGCTGCACGGTGCTGCCTTTGGGGCCTGGTCAGAGCTGCACG GTGCTGCCTTTGGGGCCTGGTCAGAGCTGCACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0055 a0001c0002t0055	a0001c0002t0055g0003 a0001c0002t0055g0003	1	384	0.0026	-132	c.-36 others(11): Show c.-3672_-3541del	STX16	ENSG00000124222.23	transcript	ENST00000371141.8	protein_coding		2948		chr20	TogoVar
TAF13_chr1_109059140_109081003	109071957	AATATATA others(125): Show AATATATATATATATATATACACACATATATATATATATATATATATATA TATATATACACACACATATATATATATATATATATATACACACACATATA TATATATATATATATATATACACACACATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03225.hp1 NA18522.hp2 others(5): Show HG00621.hp1 HG03225.hp1 NA18522.hp2 NA18747.hp2 NA18944.hp1 NA18982.hp1 NA18995.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0002	a0001c0001t0002g0028 a0001c0001t0002g0057 a0001c0001t0003g0101 others(3): Show a0001c0001t0002g0028 a0001c0001t0002g0057 a0001c0001t0003g0101 a0001c0001t0003g0139 a0001c0001t0006g0113 a0001c0002t0002g0027	8	414	0.0193	-132	c.106 others(17): Show c.106+2898_106+3029del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar
TBC1D22A_chr22_46757650_47180693	47144671	CGGGTGCA others(125): Show CGGGTGCAGCCCGTGAAGGTGCCTGCTGGCTGAGATCCTGGGACTGGGTG CAGCCCGTGAAGGTGCCTGCTGGCTGAGATCCTGGGACTGGGTGCAGCCC GTGAAGGTGCCTGCTGGCTGAGATCCTGGGACT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00639.hp2 others(16): Show HG00280.hp1 HG00438.hp2 HG00639.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG02109.hp1 HG02451.hp1 HG02622.hp1 HG02809.hp1 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03239.hp1 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA19240.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0003c0005t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0051 others(16): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0083 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0052 a0001c0001t0002g0097 a0001c0001t0004g0021 a0001c0001t0004g0092 a0001c0001t0005g0105 a0001c0001t0007g0077 a0001c0001t0011g0023 a0003c0005t0001g0066	19	112	0.1696	-132	c.142 others(21): Show c.1426-28697_1426-28566del	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCD_chr17_82747065_82950914	82843367	GTCCAGCT others(125): Show GTCCAGCTTACTTATCATTCCCTTCCCCTCCCCGTCCAGCTTATATACCC TTCCTTTCCCCTCCCCATCCAGCTTACATACCCTTCCCTTCCCCTCCCCG TCCAGCTTACTTACCCTTCCCTTCCCCTCACCA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02965.hp2 HG03195.hp2 HG02258.hp1 HG02965.hp2 HG03195.hp2	a0002 a0006 a0002 a0006	a0002c0006 a0006c0038 a0002c0006 a0006c0038	a0002c0006t0005 a0006c0038t0005 a0002c0006t0005 a0006c0038t0005	a0002c0006t0005g0108 a0002c0006t0005g0112 a0006c0038t0005g0120 a0002c0006t0005g0108 a0002c0006t0005g0112 a0006c0038t0005g0120	3	318	0.0094	-132	c.131 others(21): Show c.1319-26843_1319-26712del	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82856705	GGGTGCGC others(125): Show GGGTGCGCATCCAGGGCGGGATCGCTGGACCGCGTGCGGACCCTCGCTGC GCATCCAGGGCGGGATCGCTGGACCGCGTGCGGACCCTCGCTGCGCATCC AGGGCGGGATCGCTGGACCGCGTGCGGACCCTC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02647.hp1 others(3): Show HG01884.hp2 HG01891.hp1 HG02647.hp1 HG03209.hp1 NA18522.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0007 a0001c0009 a0002c0007	a0001c0009t0008 a0002c0007t0005 a0002c0007t0023 a0001c0009t0008 a0002c0007t0005 a0002c0007t0023	a0001c0009t0008g0086 a0001c0009t0008g0093 a0001c0009t0008g0095 others(3): Show a0001c0009t0008g0086 a0001c0009t0008g0093 a0001c0009t0008g0095 a0002c0007t0005g0091 a0002c0007t0023g0172 a0002c0007t0023g0173	6	318	0.0189	-132	c.131 others(21): Show c.1319-13429_1319-13298del	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82856795	CTGCGCAT others(125): Show CTGCGCATCCAGGGCGGGATCGCTGGACCGCGTGCGGACCCTCGGTGCGC ATCCAGGGCGGGATCGCTGGACCGCGTGCGGACCCTCGCTGCGCATCCAG GGCGGGATCGCTGGACCGCGTGCGGACCCTCGG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0306 a0002c0003t0003g0306	1	318	0.0031	-132	c.131 others(21): Show c.1319-13341_1319-13210del	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TEX19_chr17_82354247_82368775	82360560	TCAAGTTT others(125): Show TCAAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCCCCCAGTTTCC CTCAGGTTCCCTCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGGTTCC CTCGGGTTCCCTCAAGTTTCCCTCAGGTTCCCC	T T	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	380	0.0026	-132	c.-27 others(19): Show c.-272+1278_-271-1186del	TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
TFB1M_chr6_155251134_155319484	155305177	TATATATT others(125): Show TATATATTAAATTATATATTTATATATATATTAAATTATATATTTATATA TATATATTAAATTATATATTTATATATATATTAAATTATATATTTATATA TATATATTAAATTATATATTTATATATATAAAC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0178 a0001c0001t0006g0178	1	348	0.0029	-132	c.285 others(17): Show c.285+5879_285+6010del	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
THSD7B_chr2_136760545_137682718	137546350	CATATATA others(125): Show CATATATATATATTATATATATATATAATATATATATTATATATATTATA TATATTATATATATATTATATATATTATATATATATTATATATATTATAT ATATATTATATATAATATATATATATATAATAT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0040 a0003c0040	a0003c0040t0011 a0003c0040t0011	a0003c0040t0011g0080 a0003c0040t0011g0080	1	98	0.0102	-132	c.313 others(21): Show c.3139-16858_3139-16727del	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMC4_chr19_54155108_54178160	54175973	GTGGCCTA others(125): Show GTGGCCTACCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCC ATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGCCAGGATGG TCTCGATCTCCTGACCTTGTGATCCACCCACCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0337 a0002c0002t0002g0338 a0002c0002t0002g0337 a0002c0002t0002g0338	2	407	0.0049	-132	c.-29 others(11): Show c.-2988_-2857del	TMC4	ENSG00000167608.12	transcript	ENST00000619895.5	protein_coding		2814		chr19	TogoVar
TMEM132B_chr12_125181386_125667369	125204411	CATCTCAT others(125): Show CATCTCATGAATCCTTTCAATGAGGGCTCCGTGTACCAGGCACTGTGCTT AGCTCTTTATGTGGAGTATCTCATGAATCCTTTCAATGAAGGCTCCGTGT ACCAGGCACTGTGCTTAGCTCTTTATGTGGAGT	C C	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0007 a0007	a0007c0026 a0007c0026	a0007c0026t0001 a0007c0026t0001	a0007c0026t0001g0082 a0007c0026t0001g0082	1	128	0.0078	-132	c.67+ others(17): Show c.67+17634_67+17765del	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125204500	AGGCTCCG others(125): Show AGGCTCCGTGTACCAGGCACTGTGCTTAGCTCTTTATGTGGAGTATCTCA TGAATCCTTTCAATGAGGGCTCCGTGTACCAGGCACTGTGCTTAGCTCTT TATGTGGAGTATCTCATGAATCCTTTCAATGAG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0053 a0002c0010t0002g0053	1	128	0.0078	-132	c.67+ others(17): Show c.67+17905_67+18036del	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM144_chr4_158205486_158260416	158257032	ATTATATA others(125): Show ATTATATATAGTATTATATATTATATATAGTATTATATATATTATATATA GTATTATATATTATATATAGTATTATATATATTATATATAGTATTATATA TTATATATAGTATTATATATAATATATAGTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	274	0.0037	-132	c.35 others(11): Show c.3506_*3637del	TMEM144	ENSG00000164124.11	transcript	ENST00000296529.11	protein_coding		1617		chr4	TogoVar
TMEM63C_chr14_77176798_77264495	77221279	CCTCCCAC others(125): Show CCTCCCACTCACGCCTTCCCTCCCCCTCTCGCCTCCCAATCACGCTTCAC CTCCCACTCACGCCCCCTCCCACTCACGCCTCCCCTCCCACTCATGCCTC ACCTCCCACTCACGCCTCCCATTCATGCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0012 a0001c0012t0012	a0001c0012t0012g0262 a0001c0012t0012g0262	1	322	0.0031	-132	c.312 others(17): Show c.312+1208_312+1339del	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TPO_chr2_1408463_1548673	1417325	ATCCCAAC others(125): Show ATCCCAACACAGTATCAGGCCAGTGCCGTGACTCACATCTGCAATCCCAA CACAGTATCAGGCCAGTGCCGTGACTCACATCTGCAATCCCAACACAGTA TCATCAGGCCAGTGCCGTGACTCACATCTGCAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp1 others(25): Show HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00597.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01192.hp2 HG01934.hp2 HG01978.hp2 HG02004.hp2 HG02080.hp2 HG02132.hp1 HG02523.hp2 HG02683.hp1 HG03453.hp2 HG04204.hp1 NA18612.hp2 NA18985.hp1 NA19011.hp1 NA19043.hp2 NA19088.hp2 NA20752.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0012 a0014 a0015 a0016 a0017	a0001c0004 a0002c0015 a0003c0006 others(11): Show a0001c0004 a0002c0015 a0003c0006 a0004c0007 a0004c0032 a0005c0014 a0006c0026 a0006c0027 a0009c0012 a0012c0033 a0014c0029 a0015c0035 a0016c0030 a0017c0031	a0001c0004t0001 a0001c0004t0009 a0002c0015t0003 others(14): Show a0001c0004t0001 a0001c0004t0009 a0002c0015t0003 a0002c0015t0004 a0003c0006t0004 a0004c0007t0004 a0004c0007t0008 a0004c0032t0008 a0005c0014t0001 a0006c0026t0003 a0006c0027t0002 a0009c0012t0002 a0012c0033t0001 a0014c0029t0001 a0015c0035t0002 a0016c0030t0004 a0017c0031t0001	a0001c0004t0001g0086 a0001c0004t0001g0087 a0001c0004t0001g0091 others(24): Show a0001c0004t0001g0086 a0001c0004t0001g0087 a0001c0004t0001g0091 a0001c0004t0001g0107 a0001c0004t0001g0110 a0001c0004t0001g0113 a0001c0004t0001g0114 a0001c0004t0009g0104 a0002c0015t0003g0111 a0002c0015t0004g0112 a0003c0006t0004g0096 a0003c0006t0004g0097 a0003c0006t0004g0100 a0003c0006t0004g0103 a0004c0007t0004g0109 a0004c0007t0008g0049 a0004c0007t0008g0102 a0004c0032t0008g0108 a0005c0014t0001g0002 a0006c0026t0003g0052 a0006c0027t0002g0098 a0009c0012t0002g0126 a0012c0033t0001g0101 a0014c0029t0001g0099 a0015c0035t0002g0106 a0016c0030t0004g0115 a0017c0031t0001g0105	28	130	0.2154	-132	c.94+ others(15): Show c.94+2955_94+3086del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1545030	CTATCTAT others(125): Show CTATCTATCTATCTATCTATCTACTCTAAGACAGGCTGTCCTGGGACTTC TCACCTCCACCATCACATGAGCCCATTCTCCTACTGAATATCCTCTTTCC ATCCATCTAGCTAGCTATCTGTTTATCTATTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00733.hp2 others(3): Show HG00408.hp1 HG00558.hp2 HG00733.hp2 HG00738.hp1 HG02015.hp1 HG04184.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0010	a0001c0001 a0002c0002 a0004c0005 others(2): Show a0001c0001 a0002c0002 a0004c0005 a0007c0013 a0010c0010	a0001c0001t0007 a0001c0001t0010 a0002c0002t0007 others(3): Show a0001c0001t0007 a0001c0001t0010 a0002c0002t0007 a0004c0005t0007 a0007c0013t0007 a0010c0010t0007	a0001c0001t0007g0013 a0001c0001t0010g0054 a0002c0002t0007g0121 others(3): Show a0001c0001t0007g0013 a0001c0001t0010g0054 a0002c0002t0007g0121 a0004c0005t0007g0076 a0007c0013t0007g0122 a0010c0010t0007g0081	6	130	0.0462	-132	c.25 others(11): Show c.2557_*2688del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding		1358		chr2	TogoVar
TRIP13_chr5_887884_923120	897345	TCATTCAG others(125): Show TCATTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02896.hp1 HG03209.hp1 others(1): Show HG01243.hp1 HG02896.hp1 HG03209.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0013 a0001c0001t0002g0059 a0001c0005t0002g0213 others(1): Show a0001c0001t0002g0013 a0001c0001t0002g0059 a0001c0005t0002g0213 a0001c0005t0002g0214	4	402	0.0100	-132	c.388 others(15): Show c.388+554_388+685del	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	897348	TTCAGTGT others(125): Show TTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAG CCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGG GCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAG	T T	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	402	0.0025	-132	c.388 others(15): Show c.388+683_388+814del	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	897741	TCAGTCAG others(125): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	402	0.0025	-132	c.388 others(17): Show c.388+1211_388+1342del	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	898995	GCAGTCAG others(125): Show GCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATT	G G	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	402	0.0025	-132	c.389 others(17): Show c.389-1367_389-1236del	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	899325	TCAGTCAG others(125): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATG	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	402	0.0025	-132	c.389 others(16): Show c.389-1103_389-972del	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	899589	TCAGTCAG others(125): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATG	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	402	0.0025	-132	c.389 others(15): Show c.389-839_389-708del	TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRPV5_chr7_142903101_142938746	142903858	AGTCAAGA others(125): Show AGTCAAGAATTTATTTGTGCCTGCAGATATCTGTATGAACTGGGCGAATG CCTCTCTTCTTAATCCCAAGATAACTTGGGGTTCCCGGGCCTGCCAGAAA GTAACGTTCTTTACTTATCACAGGTTGGGAACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	253	0.0040	-132	c.45 others(11): Show c.4524_*4655del	TRPV5	ENSG00000127412.7	transcript	ENST00000265310.6	protein_coding		4242		chr7	TogoVar
TSPAN32_chr11_2297013_2323204	2308429	CCCGCAGT others(125): Show CCCGCAGTGACCAGCCCCCCGCAATGACCAGCCCCCAACAGTGACCAGCC CCCCATAGTGACCGGCCCCCCACAGTGACCAGCCCCCCGCAATGACCAGC CCCCAACAGTGACCAGCCCCCCATAGTGACCGG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02896.hp2 HG00544.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0187 a0001c0001t0001g0083 a0001c0001t0001g0187	2	412	0.0049	-132	c.280 others(15): Show c.280-304_280-173del	TSPAN32	ENSG00000064201.16	transcript	ENST00000182290.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
TTLL8_chr22_50013575_50063298	50028718	CACCCTCG others(125): Show CACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACATACCCT CGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAG ACCCCCATCACGCTGTCCTAAAGACCCCCACAT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0028 a0005c0028	a0005c0028t0002 a0005c0028t0002	a0005c0028t0002g0194 a0005c0028t0002g0194	1	224	0.0045	-132	c.225 others(19): Show c.2251+1580_2251+1711del	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028754	CCCCCACA others(125): Show CCCCCACATACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCAC ACACCCTCGTAAAGACCCCCATCACGCTGTCCTAAAGACCCCCACATACC CTCGTAAAGACCCCCATCACACCATCCTAAAGA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0062 a0010c0009t0001g0062	1	224	0.0045	-132	c.225 others(19): Show c.2251+1544_2251+1675del	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50043407	GTAGATGG others(125): Show GTAGATGGATAGATAGATAAACAGTGGTGCCGAGACGTCCTTCGGTAGAT GGATAGATAGATAAACAGTGGTGCCGACATGTTCTTCGGTAGATGGATAG ATAGATAAACAGTGGTACCGAGACACCCTTCGT	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0019 a0019	a0019c0026 a0019c0026	a0019c0026t0001 a0019c0026t0001	a0019c0026t0001g0023 a0019c0026t0001g0023	1	224	0.0045	-132	c.751 others(17): Show c.751+1716_752-1601del	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	8/13			chr22	TogoVar
TUBGCP2_chr10_133273635_133313872	133292298	CCCGTGTC others(125): Show CCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACT CCGTGTCCCCCGTGTCCCTCCGTGTCCCCCGTGTCCCCGTGTCCCGGGGA GCCCTACCTGTACGGGAGAGGGCAGCATGCACA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	284	0.0035	-132	c.121 others(16): Show c.1214+69_1214+200del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
UBE2J2_chr1_1248912_1278854	1248971	GCGAGGGA others(125): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01496.hp1 HG01516.hp1 others(15): Show HG00423.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG02080.hp1 HG02165.hp1 HG02602.hp1 HG02630.hp2 HG02723.hp1 HG04115.hp1 NA18612.hp2 NA18939.hp1 NA18952.hp1 NA18960.hp2 NA18975.hp1 NA18995.hp1 NA19011.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015	a0001c0001t0003g0084 a0001c0001t0004g0119 a0001c0001t0004g0167 others(15): Show a0001c0001t0003g0084 a0001c0001t0004g0119 a0001c0001t0004g0167 a0001c0001t0004g0173 a0001c0001t0007g0125 a0001c0001t0007g0170 a0001c0001t0007g0172 a0001c0001t0007g0178 a0001c0001t0008g0017 a0001c0001t0008g0018 a0001c0001t0008g0020 a0001c0001t0010g0228 a0001c0001t0010g0256 a0001c0001t0010g0280 a0001c0001t0010g0284 a0001c0001t0010g0311 a0001c0001t0013g0036 a0001c0001t0015g0014	18	324	0.0556	-132	c.61 others(11): Show c.6100_*6231del	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4940		chr1	TogoVar
UNC5A_chr5_176805559_176885898	176872276	CTCGCCCA others(125): Show CTCGCCCAACACCACAGCTTCACATCTGCCCACACTCACCAACACCACAG CTTCCCATCTGTCCACGCTCACCAACACCACAGCTTCACATCTGCCCACA CTCACCAACACCACAGCTTCCCATCTGCCCACA	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02027.hp2 HG02080.hp2 others(9): Show HG01928.hp1 HG02027.hp2 HG02080.hp2 HG02523.hp1 HG03834.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18979.hp2 NA18983.hp2 NA18999.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 others(9): Show a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0105 a0001c0001t0001g0160 a0001c0001t0015g0041	12	268	0.0448	-132	c.887 others(17): Show c.887-1691_887-1560del	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14			chr5	TogoVar
UVSSA_chr4_1342208_1393049	1372729	AGCACTCA others(125): Show AGCACTCACCTCCCGCGTCCCTGCACTCACCTCCCGCGTCTCAGGGCACT CACCTCCCGCGTCCCTGCACTCACCTCCCGCGTCTCAGGGCACTCACCTC CCGCGTCTCAGGGCACTCACCTCCCGCGTCCCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(56): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01952.hp2 HG02004.hp1 HG02074.hp1 HG02132.hp2 HG02148.hp1 HG02273.hp1 HG02615.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG03017.hp1 HG03654.hp1 HG03927.hp2 NA18940.hp2 NA18942.hp2 NA18950.hp2 NA18954.hp2 NA18960.hp1 NA18966.hp1 NA18970.hp1 NA18972.hp2 NA18974.hp2 NA18980.hp1 NA18986.hp2 NA18992.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19078.hp2 NA19085.hp2 NA20129.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0006 a0013 a0021	a0001c0003 a0001c0005 a0003c0013 others(4): Show a0001c0003 a0001c0005 a0003c0013 a0005c0008 a0006c0025 a0013c0022 a0021c0029	a0001c0003t0032 a0001c0005t0003 a0001c0005t0017 others(11): Show a0001c0003t0032 a0001c0005t0003 a0001c0005t0017 a0001c0005t0018 a0001c0005t0022 a0001c0005t0024 a0001c0005t0027 a0001c0005t0030 a0003c0013t0012 a0005c0008t0003 a0005c0008t0031 a0006c0025t0047 a0013c0022t0003 a0021c0029t0003	a0001c0003t0032g0303 a0001c0005t0003g0025 a0001c0005t0003g0026 others(50): Show a0001c0003t0032g0303 a0001c0005t0003g0025 a0001c0005t0003g0026 a0001c0005t0003g0027 a0001c0005t0003g0028 a0001c0005t0003g0284 a0001c0005t0003g0287 a0001c0005t0003g0290 a0001c0005t0003g0291 a0001c0005t0003g0292 a0001c0005t0003g0293 a0001c0005t0003g0294 a0001c0005t0003g0296 a0001c0005t0003g0297 a0001c0005t0003g0298 a0001c0005t0003g0299 a0001c0005t0003g0301 a0001c0005t0003g0304 a0001c0005t0003g0306 a0001c0005t0003g0307 a0001c0005t0003g0308 a0001c0005t0003g0309 a0001c0005t0003g0310 a0001c0005t0003g0311 a0001c0005t0003g0312 a0001c0005t0003g0313 a0001c0005t0003g0314 a0001c0005t0003g0315 a0001c0005t0003g0317 a0001c0005t0003g0318 a0001c0005t0003g0319 a0001c0005t0003g0323 a0001c0005t0003g0324 a0001c0005t0003g0325 a0001c0005t0003g0327 a0001c0005t0003g0328 a0001c0005t0003g0331 a0001c0005t0017g0289 a0001c0005t0017g0329 a0001c0005t0018g0316 a0001c0005t0018g0330 a0001c0005t0022g0286 a0001c0005t0024g0024 a0001c0005t0027g0320 a0001c0005t0030g0285 a0003c0013t0012g0321 a0003c0013t0012g0322 a0005c0008t0003g0029 a0005c0008t0003g0326 a0005c0008t0031g0332 a0006c0025t0047g0046 a0013c0022t0003g0300 a0021c0029t0003g0305	59	400	0.1475	-132	c.128 others(19): Show c.1289-2616_1289-2485del	UVSSA	ENSG00000163945.19	transcript	ENST00000389851.10	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
VCX2_chrX_8164944_8176267	8169117	TCTCCCTC others(125): Show TCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCC TCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCCCCCTCCCTCC CTCCCCACACACCACCTCTTCCTCCCTCCCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0047 a0003c0003t0001g0047	1	115	0.0087	-132	c.78 others(9): Show c.783_*914del	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		826		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467253	GAGGAAGA others(125): Show GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGG GAGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGAAAGGAAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0017 a0017	a0017c0015 a0017c0015	a0017c0015t0006 a0017c0015t0006	a0017c0015t0006g0009 a0017c0015t0006g0009	1	271	0.0037	-132	c.87 others(10): Show c.871_*1002del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		744		chrX	TogoVar
WDR27_chr6_169452212_169707029	169662655	ATGCACCG others(125): Show ATGCACCGCGGAGCATTCGGATCACGTGTCGAGGAAAGCACTAGGGTAAC ACCCAGCATGACGCGTGTGCACCGCGGAGTACTCAGATCACGTGTCAAGG AAAGCACTAAGGTAACACCCAGCATGACGCGCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(119): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp2 HG01168.hp2 HG01175.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02165.hp1 HG02257.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18953.hp2 NA18956.hp2 NA18957.hp1 NA18966.hp2 NA18970.hp2 NA18973.hp1 NA18979.hp2 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18999.hp2 NA19003.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0004 others(16): Show a0001 a0002 a0004 a0005 a0013 a0014 a0015 a0016 a0018 a0019 a0020 a0022 a0023 a0024 a0026 a0030 a0032 a0033 a0035	a0001c0001 a0001c0010 a0001c0037 others(22): Show a0001c0001 a0001c0010 a0001c0037 a0002c0024 a0002c0026 a0004c0006 a0004c0007 a0004c0046 a0005c0004 a0013c0022 a0014c0023 a0015c0044 a0015c0047 a0016c0021 a0018c0033 a0019c0020 a0020c0019 a0022c0018 a0023c0035 a0024c0034 a0026c0048 a0030c0049 a0032c0039 a0033c0027 a0035c0036	a0001c0001t0001 a0001c0010t0008 a0001c0037t0001 others(28): Show a0001c0001t0001 a0001c0010t0008 a0001c0037t0001 a0002c0024t0005 a0002c0026t0003 a0004c0006t0006 a0004c0006t0008 a0004c0006t0020 a0004c0006t0021 a0004c0007t0005 a0004c0007t0007 a0004c0007t0019 a0004c0046t0006 a0005c0004t0009 a0013c0022t0001 a0014c0023t0007 a0015c0044t0008 a0015c0047t0008 a0016c0021t0001 a0016c0021t0006 a0018c0033t0001 a0019c0020t0012 a0020c0019t0001 a0022c0018t0001 a0023c0035t0001 a0024c0034t0001 a0026c0048t0008 a0030c0049t0006 a0032c0039t0005 a0033c0027t0001 a0035c0036t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(119): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0010t0008g0255 a0001c0010t0008g0256 a0001c0010t0008g0257 a0001c0010t0008g0258 a0001c0010t0008g0281 a0001c0037t0001g0178 a0002c0024t0005g0051 a0002c0024t0005g0075 a0002c0026t0003g0249 a0002c0026t0003g0250 a0004c0006t0006g0252 a0004c0006t0006g0266 a0004c0006t0006g0267 a0004c0006t0006g0268 a0004c0006t0006g0269 a0004c0006t0006g0270 a0004c0006t0006g0271 a0004c0006t0006g0272 a0004c0006t0006g0273 a0004c0006t0006g0275 a0004c0006t0006g0276 a0004c0006t0006g0277 a0004c0006t0006g0280 a0004c0006t0006g0283 a0004c0006t0008g0263 a0004c0006t0008g0264 a0004c0006t0008g0265 a0004c0006t0020g0260 a0004c0006t0021g0282 a0004c0007t0005g0106 a0004c0007t0005g0107 a0004c0007t0005g0108 a0004c0007t0005g0109 a0004c0007t0005g0110 a0004c0007t0005g0111 a0004c0007t0005g0112 a0004c0007t0005g0113 a0004c0007t0005g0114 a0004c0007t0005g0115 a0004c0007t0005g0116 a0004c0007t0007g0251 a0004c0007t0019g0188 a0004c0046t0006g0278 a0005c0004t0009g0285 a0013c0022t0001g0128 a0013c0022t0001g0129 a0014c0023t0007g0247 a0014c0023t0007g0248 a0015c0044t0008g0274 a0015c0047t0008g0259 a0016c0021t0001g0144 a0016c0021t0006g0254 a0018c0033t0001g0182 a0019c0020t0012g0117 a0019c0020t0012g0118 a0020c0019t0001g0130 a0020c0019t0001g0131 a0022c0018t0001g0123 a0022c0018t0001g0124 a0023c0035t0001g0119 a0024c0034t0001g0162 a0026c0048t0008g0261 a0030c0049t0006g0279 a0032c0039t0005g0092 a0033c0027t0001g0141 a0035c0036t0001g0155	122	294	0.4150	-132	c.905 others(15): Show c.905-363_905-232del	WDR27	ENSG00000184465.16	transcript	ENST00000448612.6	protein_coding	8/25			chr6	TogoVar

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