Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TTC39C_chr18_24009754_24140600	24023933	CATATATA others(43): Show CATATATATATATGCATGTATATATATATATATATATATATATATATACA T	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01109.hp1 HG02451.hp2 others(3): Show HG00544.hp1 HG01109.hp1 HG02451.hp2 HG02723.hp1 HG03471.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 others(3): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0034 a0001c0001t0042	a0001c0001t0004g0011 a0001c0001t0008g0109 a0001c0001t0014g0098 others(3): Show a0001c0001t0004g0011 a0001c0001t0008g0109 a0001c0001t0014g0098 a0001c0001t0016g0030 a0001c0001t0034g0010 a0001c0001t0042g0009	6	298	0.0201	-50	c.167 others(67): Show c.167+8908_167+8957delGCATGTATATATATATATATATATATAT ATATATACATATATATATATAT		TTC39C	ENSG00000168234.13	transcript	ENST00000317571.8	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr18	TogoVar
TTLL11_chr9_121810674_122098308	121826487	ATATATAT others(43): Show ATATATATGTGTGTGTATATATATATATGTATATATATATATGTGTGTGT G	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	172	0.0058	-50	c.184 others(69): Show c.1841-3658_1841-3609delCACACACACATATATATATATACATA TATATATATACACACACATATATA		TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	8/8						chr9	TogoVar
TTLL11_chr9_121810674_122098308	121971394	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0164 a0003c0002t0004g0164	1	144	0.0069	-50	c.148 others(69): Show c.1481+2565_1481+2614delCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCC		TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8						chr9	TogoVar
TUSC3_chr8_15535263_15771638	15639260	CGATGCTA others(43): Show CGATGCTAGATCACATGATGTTCAGAGCTTCAGTGATGATGATCATGTGT T	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0157 a0001c0001t0008g0157	1	370	0.0027	-50	c.309 others(69): Show c.309-11423_309-11374delATGATGTTCAGAGCTTCAGTGATGAT GATCATGTGTTGATGCTAGATCAC		TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
TXLNB_chr6_139235061_139296998	139288932	AGGCTTTA others(43): Show AGGCTTTATGTAGCTAACCTACTTGCTACATATCAATGCTACATTTCAAT G	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0132 a0004c0005t0002g0132	1	292	0.0034	-50	c.-14 others(63): Show c.-14-69_-14-20delCATTGAAATGTAGCATTGATATGTAGCAAGTA GGTTAGCTACATAAAGCC		TXLNB	ENSG00000164440.15	transcript	ENST00000358430.8	protein_coding	1/9						chr6	TogoVar
TXNDC16_chr14_52425596_52557505	52529676	ATATATAT others(43): Show ATATATATAATGCCTATTATATATAATATATATAATGCCTATTATATATA T	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 NA18957.hp2 others(2): Show HG01168.hp1 HG01169.hp1 NA18957.hp2 NA18966.hp1 NA19007.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0055 a0002c0003t0005g0056 a0002c0003t0005g0061 others(2): Show a0002c0003t0005g0055 a0002c0003t0005g0056 a0002c0003t0005g0061 a0002c0003t0005g0062 a0002c0003t0005g0063	5	230	0.0217	-50	c.392 others(67): Show c.392+6994_392+7043delTATATATAATAGGCATTATATATATTAT ATATAATAGGCATTATATATAT		TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20						chr14	TogoVar
TXNL4A_chr18_79965813_79993563	79991891	GGTGGTCG others(43): Show GGTGGTCGGGGCACAGCTTAGTTTTATACATTTTAGGGAGGCATGAGACA T	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0014 a0001c0001t0008g0014	1	388	0.0026	-50	c.-35 others(61): Show c.-3549_-3500delATGTCTCATGCCTCCCTAAAATGTATAAAACTAA GCTGTGCCCCGACCAC		TXNL4A	ENSG00000141759.15	transcript	ENST00000269601.10	protein_coding					3329		chr18	TogoVar
TXNRD1_chr12_104210779_104355307	104323585	ACCCCCAC others(43): Show ACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGGGGGGCTGAC C	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(111): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01361.hp2 HG01515.hp2 HG01891.hp2 HG01952.hp2 HG01975.hp2 HG02129.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18945.hp2 NA18947.hp1 NA18951.hp1 NA18954.hp2 NA18959.hp1 NA18962.hp2 NA18963.hp1 NA18971.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18985.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18998.hp2 NA19000.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19065.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19085.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(111): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0086 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0283 a0001c0001t0001g0291 a0001c0001t0007g0228 a0001c0001t0008g0231 a0001c0001t0009g0038 a0001c0003t0001g0088 a0001c0004t0001g0092	114	300	0.3800	-50	c.121 others(69): Show c.1216-1735_1216-1686delAGACGGGGCGGCTGGCCGGGCAGGGG GGCTGACCCCCCCACCTCCCTCCC		TXNRD1	ENSG00000198431.18	transcript	ENST00000525566.6	protein_coding	10/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
TYW1_chr7_66991833_67244514	67184613	TTTTATTT others(43): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATGTTATGTTAT G	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG01070.hp2 others(6): Show HG00642.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01175.hp1 HG03490.hp1 NA18970.hp1 NA18975.hp1 NA19043.hp2	a0002 a0010 a0002 a0010	a0002c0004 a0010c0020 a0002c0004 a0010c0020	a0002c0004t0002 a0002c0004t0004 a0010c0020t0008 a0002c0004t0002 a0002c0004t0004 a0010c0020t0008	a0002c0004t0002g0283 a0002c0004t0004g0288 a0002c0004t0004g0290 others(6): Show a0002c0004t0002g0283 a0002c0004t0004g0288 a0002c0004t0004g0290 a0002c0004t0004g0292 a0002c0004t0004g0297 a0002c0004t0004g0356 a0002c0004t0004g0357 a0002c0004t0004g0361 a0010c0020t0008g0213	9	299	0.0301	-50	c.180 others(69): Show c.1809+1380_1809+1429delTATTTTATTTTATTTTATTTTATTTT ATTTTATTTATGTTATGTTATGTT		TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	14/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
U2SURP_chr3_142996570_143065725	143047569	GGGGGGCT others(43): Show GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC A	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0235 a0001c0001t0006g0235	1	376	0.0027	-50	c.254 others(69): Show c.2545-3353_2545-3304delCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGCTGACCCCCCC		U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	24/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
UBE2Z_chr17_48903407_48934056	48933862	TTCCAACA others(43): Show TTCCAACATCCAGACAGCGGTCAAAGATACACCTGCAGATGCCCATCAGG A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	328	0.0030	-50	c.67 others(61): Show c.6729_*6778delTCCAACATCCAGACAGCGGTCAAAGATACACCTG CAGATGCCCATCAGGA		UBE2Z	ENSG00000159202.18	transcript	ENST00000360943.10	protein_coding					4807		chr17	TogoVar
UBE4A_chr11_118354600_118404211	118355430	CGTATATG others(43): Show CGTATATGTGTATATATACACATATACGTATATGTATATATACATATATG T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	318	0.0031	-50	c.-42 others(61): Show c.-4285_-4236delGTATATGTGTATATATACACATATACGTATATGT ATATATACATATATGT		UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding					4169		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355540	CATATGTA others(43): Show CATATGTATATATACACATATACACATATGTATATATACACATATACACA T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00735.hp2 HG01106.hp2 others(4): Show HG00408.hp1 HG00735.hp2 HG01106.hp2 NA18944.hp1 NA18981.hp1 NA18982.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0005 a0001c0001t0015	a0001c0001t0005g0213 a0001c0001t0005g0215 a0001c0001t0005g0216 others(4): Show a0001c0001t0005g0213 a0001c0001t0005g0215 a0001c0001t0005g0216 a0001c0001t0005g0218 a0001c0001t0005g0219 a0001c0001t0005g0220 a0001c0001t0015g0217	7	318	0.0220	-50	c.-41 others(61): Show c.-4175_-4126delATATGTATATATACACATATACACATATGTATAT ATACACATATACACAT		UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding					4059		chr11	TogoVar
UBL3_chr13_29759371_29855617	29835089	AATATATA others(43): Show AATATATATATATATATAAATATATATATATATATAAATATATATATATA T	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	292	0.0034	-50	c.27+ others(67): Show c.27+14373_27+14422delATATATATATATATTTATATATATATAT ATATTTATATATATATATATAT		UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4						chr13	TogoVar
UBTD1_chr10_97493924_97576206	97528627	ACCCCCAC others(43): Show ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC C	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(271): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(268): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0003g0110 a0001c0001t0003g0154 a0001c0001t0003g0176 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0220 a0001c0001t0005g0001 a0001c0001t0005g0251 a0001c0001t0007g0198 a0001c0001t0007g0199 a0001c0001t0009g0150 a0001c0001t0010g0140 a0001c0003t0001g0146	274	302	0.9073	-50	c.70+ others(67): Show c.70+29453_70+29502delCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGAC		UBTD1	ENSG00000165886.5	transcript	ENST00000370664.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr10	TogoVar
UGT2B4_chr4_69475165_69500905	69497564	AAAGATAA others(43): Show AAAGATAACTCAAATTAGAAGTGGAACTTGAAGACGTAAGTAAACTGCTG C	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	434	0.0023	-50	c.-17 others(61): Show c.-1753_-1704delGCAGCAGTTTACTTACGTCTTCAAGTTCCACTTC TAATTTGAGTTATCTT		UGT2B4	ENSG00000156096.15	transcript	ENST00000305107.7	protein_coding					1660		chr4	TogoVar
ULK4_chr3_41241599_41967103	41856540	TATATATA others(43): Show TATATATATGTGTATATATATACACATATATATATGTGTATATATATACA C	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG04184.hp2 HG01891.hp1 HG04184.hp2	a0003 a0016 a0003 a0016	a0003c0003 a0016c0015 a0003c0003 a0016c0015	a0003c0003t0001 a0016c0015t0001 a0003c0003t0001 a0016c0015t0001	a0003c0003t0001g0061 a0016c0015t0001g0005 a0003c0003t0001g0061 a0016c0015t0001g0005	2	70	0.0286	-50	c.165 others(71): Show c.1657-20619_1657-20570delGTGTATATATATACACATATATAT ATGTGTATATATATACACATATATAT		ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	17/36						chr3	TogoVar
UMODL1_chr21_42066317_42147996	42078147	AGGGCCAG others(43): Show AGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAATAGAAACCAGGC G	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00597.hp1 others(90): Show HG00280.hp2 HG00544.hp1 HG00597.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01981.hp2 HG02040.hp1 HG02083.hp1 HG02083.hp2 HG02257.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18945.hp2 NA18948.hp1 NA18953.hp2 NA18979.hp1 NA18980.hp2 NA18994.hp1 NA18998.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp2 NA19065.hp1 NA19068.hp2 NA19079.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(44): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0020 a0021 a0023 a0025 a0026 a0028 a0032 a0034 a0035 a0037 a0040 a0041 a0045 a0046 a0050 a0064 a0065 a0067 a0070 a0079 a0081 a0084 a0089 a0090 a0096 a0098 a0099 a0100 a0101 a0121 a0122	a0001c0001 a0001c0008 a0001c0020 others(55): Show a0001c0001 a0001c0008 a0001c0020 a0001c0055 a0002c0002 a0002c0005 a0002c0015 a0002c0064 a0003c0004 a0003c0051 a0004c0056 a0004c0188 a0005c0019 a0006c0003 a0007c0006 a0008c0012 a0009c0018 a0010c0131 a0011c0010 a0012c0145 a0013c0110 a0014c0009 a0015c0016 a0016c0032 a0020c0030 a0020c0113 a0021c0189 a0023c0099 a0025c0028 a0025c0154 a0026c0025 a0028c0050 a0032c0033 a0034c0111 a0035c0164 a0037c0152 a0040c0058 a0041c0136 a0045c0041 a0046c0144 a0050c0107 a0050c0109 a0064c0191 a0065c0172 a0067c0122 a0070c0106 a0079c0141 a0081c0160 a0084c0096 a0089c0108 a0090c0156 a0096c0097 a0098c0130 a0099c0140 a0100c0126 a0101c0086 a0121c0137 a0122c0129	a0001c0001t0004 a0001c0008t0001 a0001c0020t0001 others(64): Show a0001c0001t0004 a0001c0008t0001 a0001c0020t0001 a0001c0055t0004 a0002c0002t0001 a0002c0002t0004 a0002c0002t0010 a0002c0002t0033 a0002c0005t0001 a0002c0005t0003 a0002c0015t0001 a0002c0015t0004 a0002c0015t0010 a0002c0064t0006 a0003c0004t0028 a0003c0051t0001 a0004c0056t0002 a0004c0188t0002 a0005c0019t0005 a0005c0019t0018 a0006c0003t0002 a0007c0006t0003 a0007c0006t0029 a0008c0012t0001 a0009c0018t0001 a0010c0131t0017 a0011c0010t0001 a0011c0010t0009 a0012c0145t0001 a0013c0110t0001 a0014c0009t0008 a0015c0016t0002 a0016c0032t0001 a0020c0030t0001 a0020c0113t0001 a0021c0189t0004 a0023c0099t0001 a0025c0028t0001 a0025c0154t0011 a0026c0025t0003 a0028c0050t0001 a0032c0033t0001 a0034c0111t0012 a0035c0164t0001 a0037c0152t0002 a0040c0058t0003 a0041c0136t0001 a0045c0041t0001 a0046c0144t0002 a0050c0107t0001 a0050c0109t0001 a0064c0191t0001 a0065c0172t0004 a0067c0122t0004 a0070c0106t0001 a0079c0141t0035 a0081c0160t0017 a0084c0096t0001 a0089c0108t0002 a0090c0156t0001 a0096c0097t0002 a0098c0130t0009 a0099c0140t0001 a0100c0126t0022 a0101c0086t0002 a0121c0137t0005 a0122c0129t0001	a0001c0001t0004g0068 a0001c0008t0001g0211 a0001c0020t0001g0029 others(88): Show a0001c0001t0004g0068 a0001c0008t0001g0211 a0001c0020t0001g0029 a0001c0020t0001g0056 a0001c0020t0001g0069 a0001c0055t0004g0057 a0002c0002t0001g0161 a0002c0002t0001g0330 a0002c0002t0004g0329 a0002c0002t0010g0003 a0002c0002t0010g0041 a0002c0002t0010g0042 a0002c0002t0033g0067 a0002c0005t0001g0047 a0002c0005t0001g0048 a0002c0005t0001g0050 a0002c0005t0001g0051 a0002c0005t0001g0126 a0002c0005t0001g0131 a0002c0005t0001g0214 a0002c0005t0003g0049 a0002c0015t0001g0052 a0002c0015t0001g0129 a0002c0015t0004g0130 a0002c0015t0010g0053 a0002c0064t0006g0285 a0003c0004t0028g0038 a0003c0051t0001g0076 a0004c0056t0002g0036 a0004c0056t0002g0061 a0004c0188t0002g0087 a0005c0019t0005g0064 a0005c0019t0018g0273 a0006c0003t0002g0055 a0007c0006t0003g0033 a0007c0006t0029g0065 a0008c0012t0001g0046 a0009c0018t0001g0282 a0010c0131t0017g0217 a0011c0010t0001g0075 a0011c0010t0009g0028 a0012c0145t0001g0212 a0013c0110t0001g0270 a0014c0009t0008g0144 a0014c0009t0008g0145 a0014c0009t0008g0146 a0015c0016t0002g0114 a0015c0016t0002g0127 a0015c0016t0002g0128 a0015c0016t0002g0132 a0015c0016t0002g0142 a0016c0032t0001g0078 a0020c0030t0001g0015 a0020c0113t0001g0017 a0021c0189t0004g0133 a0023c0099t0001g0221 a0025c0028t0001g0008 a0025c0028t0001g0274 a0025c0154t0011g0134 a0026c0025t0003g0034 a0028c0050t0001g0045 a0032c0033t0001g0066 a0032c0033t0001g0160 a0032c0033t0001g0276 a0034c0111t0012g0275 a0035c0164t0001g0074 a0037c0152t0002g0054 a0040c0058t0003g0039 a0040c0058t0003g0040 a0041c0136t0001g0030 a0045c0041t0001g0012 a0045c0041t0001g0014 a0046c0144t0002g0026 a0050c0107t0001g0158 a0050c0109t0001g0228 a0064c0191t0001g0077 a0065c0172t0004g0305 a0067c0122t0004g0135 a0070c0106t0001g0157 a0079c0141t0035g0371 a0081c0160t0017g0156 a0084c0096t0001g0136 a0089c0108t0002g0159 a0090c0156t0001g0016 a0096c0097t0002g0112 a0098c0130t0009g0060 a0099c0140t0001g0024 a0100c0126t0022g0073 a0101c0086t0002g0013 a0121c0137t0005g0162 a0122c0129t0001g0213	93	390	0.2385	-50	c.319 others(67): Show c.319+1988_319+2037delTAGAAACCAGGCGGGGCCAGCTGACCCC AGAGCAACACCTCCATCACCAA		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078147	AGGGCCAG others(43): Show AGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAATAGAAACCAGGC G	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0113 a0001c0001t0004g0113	1	298	0.0034	-50	c.319 others(72): Show c.319+1900_319+1950delAGGGCCAGCTGACCCCAGAGCAACACCT CCATCACCAATAGAAACCAGGCGinsC		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22						chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078235	TAGAAACC others(43): Show TAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA C	T T	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0024 a0024	a0024c0183 a0024c0183	a0024c0183t0001 a0024c0183t0001	a0024c0183t0001g0173 a0024c0183t0001g0173	1	305	0.0033	-50	c.319 others(67): Show c.319+2050_319+2099delGGGGCCAGCTGACCCCAGAGCAACACCT CCATCACCAACAGAAACCAGGC		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078297	GGGGCCAG others(43): Show GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC C	G G	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA19087.hp1 NA18941.hp2 NA19087.hp1	a0002 a0053 a0002 a0053	a0002c0005 a0053c0065 a0002c0005 a0053c0065	a0002c0005t0001 a0053c0065t0001 a0002c0005t0001 a0053c0065t0001	a0002c0005t0001g0148 a0053c0065t0001g0007 a0002c0005t0001g0148 a0053c0065t0001g0007	2	394	0.0051	-50	c.319 others(67): Show c.319+2100_319+2149delCGGGCCAGCTGACCCCAGAGCAACACCT CCATCACCAACAGAAACCAGGC		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078347	CGGGCCAG others(43): Show CGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC G	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0016 a0016	a0016c0032 a0016c0032	a0016c0032t0005 a0016c0032t0005	a0016c0032t0005g0088 a0016c0032t0005g0089 a0016c0032t0005g0088 a0016c0032t0005g0089	2	259	0.0077	-50	c.319 others(67): Show c.319+2193_319+2242delACCAGGCGGGGCCAGCTGACCCCAGAGC AACACCTCCATCACCAACAGAA		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078446	CGGGGCCA others(43): Show CGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAGCCAGG T	C C	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18955.hp2 NA18960.hp2 others(4): Show NA18943.hp2 NA18955.hp2 NA18960.hp2 NA18972.hp2 NA19009.hp2 NA19064.hp1 NA19088.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0031	a0001c0119 a0003c0046 a0005c0013 others(1): Show a0001c0119 a0003c0046 a0005c0013 a0031c0094	a0001c0119t0001 a0003c0046t0007 a0005c0013t0001 others(1): Show a0001c0119t0001 a0003c0046t0007 a0005c0013t0001 a0031c0094t0002	a0001c0119t0001g0335 a0003c0046t0007g0336 a0005c0013t0001g0006 others(3): Show a0001c0119t0001g0335 a0003c0046t0007g0336 a0005c0013t0001g0006 a0005c0013t0001g0222 a0005c0013t0001g0223 a0031c0094t0002g0283	7	397	0.0176	-50	c.319 others(67): Show c.319+2243_319+2292delGCCAGGTGGGGCCAGCTGACCCCAGAGC AACACCTCCATCACCAACAGAA		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078585	TAGAAACC others(43): Show TAGAAACCAGGCGGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAA C	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02129.hp2 HG01261.hp2 HG02129.hp2	a0004 a0008 a0004 a0008	a0004c0007 a0008c0012 a0004c0007 a0008c0012	a0004c0007t0002 a0008c0012t0004 a0004c0007t0002 a0008c0012t0004	a0004c0007t0002g0203 a0008c0012t0004g0155 a0004c0007t0002g0203 a0008c0012t0004g0155	2	346	0.0058	-50	c.319 others(67): Show c.319+2450_319+2499delGGGGCCAGCTGACCCCAGAGCAACACCT CCATCACCAACAGAAACCAGGC		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42078697	GGGGCCAG others(43): Show GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC A	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG02896.hp1 others(1): Show HG01109.hp2 HG02145.hp2 HG02896.hp1 HG03139.hp2	a0013 a0027 a0013 a0027	a0013c0029 a0027c0039 a0013c0029 a0027c0039	a0013c0029t0001 a0027c0039t0018 a0013c0029t0001 a0027c0039t0018	a0013c0029t0001g0380 a0013c0029t0001g0381 a0013c0029t0001g0382 others(1): Show a0013c0029t0001g0380 a0013c0029t0001g0381 a0013c0029t0001g0382 a0027c0039t0018g0122	4	240	0.0167	-50	c.319 others(67): Show c.319+2473_319+2522delCACCTCCATCACCAACAGAAACCAGGCA GGGCCAGCTGACCCCAGAGCAA		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
UMPS_chr3_124725452_124754273	124750364	TGGGGCGG others(43): Show TGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGA C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(83): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG01070.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01168.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02896.hp1 HG03041.hp1 HG03927.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp2 NA18973.hp1 NA18978.hp2 NA18981.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19012.hp1 NA19055.hp2 NA19057.hp1 NA19062.hp2 NA19063.hp1 NA19070.hp1 NA19072.hp1 NA19076.hp2 NA19077.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 a0001c0001 a0002c0002 a0002c0007	a0001c0001t0001 a0002c0002t0002 a0002c0002t0009 others(11): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 a0002c0002t0025 a0002c0002t0030 a0002c0002t0031 a0002c0002t0043 a0002c0002t0088 a0002c0002t0089 a0002c0002t0090 a0002c0002t0092 a0002c0002t0096 a0002c0007t0002	a0001c0001t0001g0001 a0001c0001t0001g0038 a0002c0002t0002g0003 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0038 a0002c0002t0002g0003 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0027 a0002c0002t0002g0034 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0089 a0002c0002t0002g0096 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0102 a0002c0002t0002g0104 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0110 a0002c0002t0009g0003 a0002c0002t0009g0014 a0002c0002t0009g0097 a0002c0002t0009g0103 a0002c0002t0010g0003 a0002c0002t0010g0020 a0002c0002t0010g0088 a0002c0002t0010g0090 a0002c0002t0025g0013 a0002c0002t0025g0039 a0002c0002t0025g0095 a0002c0002t0030g0003 a0002c0002t0031g0013 a0002c0002t0043g0013 a0002c0002t0043g0094 a0002c0002t0088g0105 a0002c0002t0089g0003 a0002c0002t0090g0013 a0002c0002t0092g0034 a0002c0002t0096g0101 a0002c0007t0002g0003 a0002c0007t0002g0098	86	432	0.1991	-50	c.62 others(61): Show c.6281_*6330delGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CACCTCCCTCCCAGAC		UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding					1092		chr3	TogoVar
UNC13C_chr15_53973441_54633605	54552401	TATATAAT others(43): Show TATATAATTATATATTACAATATATAATATAATTATATATTACAATATAT A	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00423.hp2 others(124): Show HG00099.hp1 HG00423.hp1 HG00423.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA18979.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA19030.hp1 NA19030.hp2 NA19064.hp1 NA19081.hp1 NA19081.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015	a0001c0001 a0001c0002 a0001c0003 others(32): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0014 a0001c0021 a0001c0029 a0001c0033 a0001c0034 a0001c0035 a0001c0040 a0001c0041 a0002c0016 a0002c0017 a0002c0018 a0002c0019 a0003c0008 a0003c0037 a0003c0038 a0004c0009 a0004c0026 a0005c0011 a0005c0027 a0006c0013 a0007c0010 a0008c0023 a0009c0028 a0010c0039 a0011c0024 a0012c0025 a0013c0022 a0014c0030 a0015c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(88): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0036 a0001c0001t0038 a0001c0001t0040 a0001c0001t0047 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0013 a0001c0002t0020 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0034 a0001c0002t0048 a0001c0002t0051 a0001c0002t0060 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0010 a0001c0003t0021 a0001c0003t0039 a0001c0003t0042 a0001c0003t0050 a0001c0003t0053 a0001c0004t0018 a0001c0004t0028 a0001c0004t0052 a0001c0004t0055 a0001c0005t0003 a0001c0007t0001 a0001c0007t0012 a0001c0007t0016 a0001c0014t0002 a0001c0021t0013 a0001c0029t0046 a0001c0033t0033 a0001c0034t0058 a0001c0035t0001 a0001c0040t0026 a0001c0041t0025 a0002c0016t0004 a0002c0017t0007 a0002c0018t0004 a0002c0019t0031 a0002c0019t0054 a0003c0008t0015 a0003c0037t0008 a0003c0038t0011 a0004c0009t0005 a0004c0009t0026 a0004c0026t0001 a0005c0011t0003 a0005c0027t0008 a0006c0013t0014 a0007c0010t0002 a0007c0010t0035 a0008c0023t0043 a0009c0028t0019 a0010c0039t0001 a0011c0024t0028 a0012c0025t0018 a0013c0022t0010 a0014c0030t0014 a0015c0031t0001	a0001c0001t0001g0004 a0001c0001t0001g0035 a0001c0001t0002g0067 others(124): Show a0001c0001t0001g0004 a0001c0001t0001g0035 a0001c0001t0002g0067 a0001c0001t0002g0074 a0001c0001t0002g0102 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0006g0106 a0001c0001t0006g0124 a0001c0001t0006g0137 a0001c0001t0007g0016 a0001c0001t0007g0028 a0001c0001t0007g0152 a0001c0001t0011g0077 a0001c0001t0011g0150 a0001c0001t0012g0057 a0001c0001t0014g0083 a0001c0001t0015g0070 a0001c0001t0016g0113 a0001c0001t0016g0115 a0001c0001t0017g0136 a0001c0001t0018g0033 a0001c0001t0019g0025 a0001c0001t0019g0042 a0001c0001t0029g0090 a0001c0001t0030g0142 a0001c0001t0032g0099 a0001c0001t0036g0089 a0001c0001t0038g0100 a0001c0001t0040g0121 a0001c0001t0047g0131 a0001c0001t0056g0015 a0001c0001t0057g0145 a0001c0001t0059g0147 a0001c0002t0001g0005 a0001c0002t0001g0018 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0001g0040 a0001c0002t0002g0063 a0001c0002t0002g0082 a0001c0002t0005g0126 a0001c0002t0006g0127 a0001c0002t0008g0081 a0001c0002t0009g0133 a0001c0002t0010g0007 a0001c0002t0013g0153 a0001c0002t0020g0020 a0001c0002t0020g0024 a0001c0002t0020g0041 a0001c0002t0021g0080 a0001c0002t0022g0086 a0001c0002t0022g0092 a0001c0002t0023g0064 a0001c0002t0024g0116 a0001c0002t0024g0138 a0001c0002t0034g0079 a0001c0002t0048g0111 a0001c0002t0051g0157 a0001c0002t0060g0146 a0001c0003t0001g0019 a0001c0003t0002g0088 a0001c0003t0003g0065 a0001c0003t0003g0103 a0001c0003t0004g0011 a0001c0003t0005g0120 a0001c0003t0005g0125 a0001c0003t0005g0128 a0001c0003t0009g0110 a0001c0003t0009g0114 a0001c0003t0009g0119 a0001c0003t0010g0009 a0001c0003t0010g0023 a0001c0003t0010g0026 a0001c0003t0021g0155 a0001c0003t0039g0101 a0001c0003t0042g0107 a0001c0003t0050g0012 a0001c0003t0053g0058 a0001c0004t0018g0096 a0001c0004t0028g0148 a0001c0004t0052g0036 a0001c0004t0055g0095 a0001c0005t0003g0066 a0001c0005t0003g0068 a0001c0005t0003g0097 a0001c0007t0001g0029 a0001c0007t0012g0154 a0001c0007t0016g0135 a0001c0014t0002g0076 a0001c0014t0002g0087 a0001c0021t0013g0038 a0001c0021t0013g0039 a0001c0029t0046g0143 a0001c0033t0033g0093 a0001c0034t0058g0149 a0001c0035t0001g0001 a0001c0040t0026g0027 a0001c0041t0025g0156 a0002c0016t0004g0053 a0002c0016t0004g0055 a0002c0017t0007g0049 a0002c0018t0004g0046 a0002c0018t0004g0048 a0002c0019t0031g0071 a0002c0019t0054g0059 a0003c0008t0015g0091 a0003c0008t0015g0105 a0003c0037t0008g0094 a0003c0038t0011g0002 a0004c0009t0005g0132 a0004c0009t0026g0021 a0004c0026t0001g0022 a0005c0011t0003g0072 a0005c0011t0003g0078 a0005c0027t0008g0073 a0006c0013t0014g0151 a0007c0010t0002g0139 a0007c0010t0035g0140 a0008c0023t0043g0129 a0009c0028t0019g0008 a0010c0039t0001g0037 a0011c0024t0028g0017 a0012c0025t0018g0030 a0013c0022t0010g0061 a0014c0030t0014g0084 a0015c0031t0001g0051	127	144	0.8819	-50	c.587 others(69): Show c.5877+2752_5877+2801delCAATATATAATATAATTATATATTAC AATATATAATATAATTATATATTA		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	28/32					INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5B_chr10_71207570_71307864	71296712	GATATTCC others(43): Show GATATTCCAGCTGCATACCACTCTGGCAGAGGTGAGGGAAGTCGGGGCCA C	G G	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	366	0.0027	-50	c.247 others(62): Show c.2475_2490+34delTACCACTCTGGCAGAGGTGAGGGAAGTCGGGGC CACATATTCCAGCTGCA	p.His others(5): Show p.His825fs	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/17	2891/6841	2475/2838	825/945		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296733	TCTGGCAG others(43): Show TCTGGCAGAGGTGAGGGAAGTCGGGGCCACATATTCCAGCTGCACACCAC A	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01981.hp2 HG02273.hp1 HG01981.hp2 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0049 a0001c0002t0002 a0001c0002t0049	a0001c0002t0002g0121 a0001c0002t0049g0086 a0001c0002t0002g0121 a0001c0002t0049g0086	2	361	0.0055	-50	c.248 others(62): Show c.2487_2490+46delAGAGGTGAGGGAAGTCGGGGCCACATATTCCAG CTGCACACCACACTGGC	p.Glu others(5): Show p.Glu830fs	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/17	2903/6841	2487/2838	829/945		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296739	AGAGGTGA others(43): Show AGAGGTGAGGGAAGTCGGGGCCACATATTCCAGCTGCACACCACACTGGC G	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA19054.hp2 HG02015.hp2 NA19054.hp2	a0001 a0005 a0001 a0005	a0001c0028 a0005c0011 a0001c0028 a0005c0011	a0001c0028t0004 a0005c0011t0023 a0001c0028t0004 a0005c0011t0023	a0001c0028t0004g0286 a0005c0011t0023g0101 a0001c0028t0004g0286 a0005c0011t0023g0101	2	360	0.0056	-50	c.249 others(65): Show c.2490+11_2490+60delTCGGGGCCACATATTCCAGCTGCACACCAC ACTGGCGGAGGTGAGGGAAG		UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296762	CATATTCC others(43): Show CATATTCCAGCTGCACACCACACTGGCGGAGGTGAGGGAAGGGTGGGGCA G	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02055.hp2 HG02559.hp1 others(5): Show HG01106.hp2 HG02055.hp2 HG02559.hp1 HG03927.hp1 NA18939.hp2 NA18952.hp1 NA18957.hp2 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0007 a0003c0032	a0001c0001t0013 a0001c0001t0014 a0001c0002t0002 others(4): Show a0001c0001t0013 a0001c0001t0014 a0001c0002t0002 a0001c0002t0004 a0001c0003t0037 a0003c0007t0012 a0003c0032t0012	a0001c0001t0013g0234 a0001c0001t0014g0029 a0001c0002t0002g0102 others(5): Show a0001c0001t0013g0234 a0001c0001t0014g0029 a0001c0002t0002g0102 a0001c0002t0004g0162 a0001c0003t0037g0032 a0003c0007t0012g0228 a0003c0007t0012g0356 a0003c0032t0012g0014	8	348	0.0230	-50	c.249 others(65): Show c.2490+41_2490+90delACTGGCGGAGGTGAGGGAAGGGTGGGGCAG ATATTCCAGCTGCACACCAC		UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296783	ACTGGCGG others(43): Show ACTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC G	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00558.hp1 others(76): Show HG00099.hp2 HG00280.hp2 HG00558.hp1 HG00673.hp2 HG00738.hp1 HG01081.hp1 HG01109.hp2 HG01255.hp2 HG01943.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02451.hp1 HG02615.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03516.hp2 HG03579.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18977.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18997.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0004 others(9): Show a0001 a0002 a0004 a0005 a0006 a0007 a0010 a0016 a0019 a0020 a0021 a0026	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0017 a0001c0025 a0001c0042 a0002c0005 a0004c0008 a0005c0011 a0006c0013 a0007c0012 a0010c0015 a0016c0027 a0019c0047 a0020c0022 a0021c0018 a0026c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0025 a0001c0001t0031 a0001c0001t0042 a0001c0001t0047 a0001c0001t0055 a0001c0001t0057 a0001c0001t0063 a0001c0001t0070 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0016 a0001c0002t0022 a0001c0002t0023 a0001c0002t0033 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0018 a0001c0003t0019 a0001c0004t0003 a0001c0004t0021 a0001c0010t0005 a0001c0017t0065 a0001c0025t0067 a0001c0042t0001 a0002c0005t0001 a0002c0005t0013 a0004c0008t0001 a0004c0008t0004 a0005c0011t0003 a0006c0013t0040 a0007c0012t0010 a0010c0015t0016 a0016c0027t0001 a0019c0047t0020 a0020c0022t0059 a0021c0018t0020 a0026c0020t0020	a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0072 others(74): Show a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0202 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0247 a0001c0001t0001g0265 a0001c0001t0001g0283 a0001c0001t0001g0288 a0001c0001t0001g0310 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0166 a0001c0001t0002g0287 a0001c0001t0004g0028 a0001c0001t0004g0033 a0001c0001t0005g0041 a0001c0001t0009g0180 a0001c0001t0009g0203 a0001c0001t0011g0273 a0001c0001t0025g0030 a0001c0001t0025g0134 a0001c0001t0031g0340 a0001c0001t0042g0232 a0001c0001t0047g0222 a0001c0001t0055g0293 a0001c0001t0057g0109 a0001c0001t0063g0031 a0001c0001t0070g0009 a0001c0002t0002g0002 a0001c0002t0002g0252 a0001c0002t0002g0332 a0001c0002t0004g0077 a0001c0002t0006g0034 a0001c0002t0006g0058 a0001c0002t0006g0187 a0001c0002t0006g0311 a0001c0002t0006g0315 a0001c0002t0008g0043 a0001c0002t0009g0304 a0001c0002t0016g0323 a0001c0002t0022g0149 a0001c0002t0022g0177 a0001c0002t0023g0280 a0001c0002t0033g0040 a0001c0003t0001g0284 a0001c0003t0002g0007 a0001c0003t0002g0160 a0001c0003t0002g0257 a0001c0003t0008g0019 a0001c0003t0008g0221 a0001c0003t0018g0329 a0001c0003t0019g0326 a0001c0004t0003g0278 a0001c0004t0021g0138 a0001c0004t0021g0242 a0001c0010t0005g0093 a0001c0017t0065g0144 a0001c0025t0067g0076 a0001c0042t0001g0108 a0002c0005t0001g0060 a0002c0005t0001g0094 a0002c0005t0013g0295 a0004c0008t0001g0158 a0004c0008t0004g0135 a0005c0011t0003g0176 a0006c0013t0040g0200 a0006c0013t0040g0297 a0007c0012t0010g0018 a0010c0015t0016g0325 a0016c0027t0001g0088 a0019c0047t0020g0296 a0020c0022t0059g0010 a0021c0018t0020g0353 a0026c0020t0020g0337	79	315	0.2508	-50	c.249 others(67): Show c.2490+163_2490+212delTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGG		UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC79_chr14_93425939_93712876	93576966	TGAGACCT others(43): Show TGAGACCTTGTCTCTACAAAAAAATTTTCAAAAACTTAGCTGGGCCTGGT G	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00673.hp2 others(29): Show HG00280.hp2 HG00558.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp1 HG01099.hp2 HG01168.hp2 HG01346.hp1 HG01517.hp2 HG01975.hp2 HG02135.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG03017.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG04184.hp2 NA18944.hp1 NA18949.hp1 NA18955.hp2 NA19004.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19079.hp2 NA19081.hp2 NA19087.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0010	a0001c0001 a0001c0002 a0001c0020 others(6): Show a0001c0001 a0001c0002 a0001c0020 a0001c0028 a0002c0007 a0003c0014 a0005c0037 a0008c0026 a0010c0025	a0001c0001t0001 a0001c0002t0001 a0001c0020t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0020t0001 a0001c0028t0001 a0002c0007t0001 a0003c0014t0001 a0005c0037t0001 a0008c0026t0001 a0010c0025t0001	a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0030 others(29): Show a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0161 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0001g0183 a0001c0020t0001g0077 a0001c0020t0001g0083 a0001c0028t0001g0074 a0002c0007t0001g0072 a0003c0014t0001g0159 a0005c0037t0001g0094 a0008c0026t0001g0085 a0010c0025t0001g0076	32	192	0.1667	-50	c.221 others(67): Show c.2212-824_2212-775delAGACCTTGTCTCTACAAAAAAATTTTCA AAAACTTAGCTGGGCCTGGTGG		UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	17/51					INFO_REALIGN_3_PRIME	chr14	TogoVar
UPF1_chr19_18826959_18873230	18829592	CATATATA others(43): Show CATATATATATATACATATATATATATGTATATATATATATATATATATA T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02818.hp2 NA20129.hp1 HG02109.hp1 HG02818.hp2 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0176 a0001c0003t0004g0179 a0001c0003t0004g0180 a0001c0003t0004g0176 a0001c0003t0004g0179 a0001c0003t0004g0180	3	373	0.0080	-50	c.-26 others(61): Show c.-2617_-2568delATATATATATATACATATATATATATGTATATAT ATATATATATATATAT		UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding					2366		chr19	TogoVar
USP13_chr3_179648040_179794401	179727982	CCCACCTC others(43): Show CCCACCTCCCTCCCAGACGGGGCGGCTGGCCAGGTGGGGGGCTGATCCCC A	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02486.hp1 HG02970.hp1 others(2): Show HG01934.hp1 HG02486.hp1 HG02970.hp1 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0023 a0001c0002t0001	a0001c0001t0001g0260 a0001c0001t0003g0026 a0001c0001t0004g0261 others(2): Show a0001c0001t0001g0260 a0001c0001t0003g0026 a0001c0001t0004g0261 a0001c0001t0023g0262 a0001c0002t0001g0185	5	298	0.0168	-50	c.108 others(69): Show c.1089-2193_1089-2144delAGACGGGGCGGCTGGCCAGGTGGGGG GCTGATCCCCACCACCTCCCTCCC		USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	8/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
USP22_chr17_20994596_21048011	21016078	TTTTCGAG others(43): Show TTTTCGAGTCCTCATATGAATTTTTTCCTTTCTACCATCTAGTTTTCCAC A	T T	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18985.hp2 NA19064.hp1 NA18950.hp2 NA18985.hp2 NA19064.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0030 a0001c0003t0017g0058 a0001c0003t0017g0063 a0001c0003t0017g0030 a0001c0003t0017g0058 a0001c0003t0017g0063	3	354	0.0085	-50	c.691 others(65): Show c.691-229_691-180delTGTGGAAAACTAGATGGTAGAAAGGAAAAA ATTCATATGAGGACTCGAAA		USP22	ENSG00000124422.12	transcript	ENST00000261497.9	protein_coding	5/12						chr17	TogoVar
USP32_chr17_60172327_60397133	60313181	GCAGAGGT others(43): Show GCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCATTCCAGCCTGGGTG A	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02451.hp2 others(7): Show HG01884.hp2 HG02109.hp2 HG02451.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG03130.hp2 HG03225.hp1 HG03540.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0003g0002 a0001c0001t0003g0003 others(7): Show a0001c0001t0001g0007 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0148	10	150	0.0667	-50	c.187 others(69): Show c.187-11527_187-11478delTCACCCAGGCTGGAATGCAGTGGTGC GATCTTGGCTCACTGCAACCTCTG		USP32	ENSG00000170832.13	transcript	ENST00000300896.9	protein_coding	2/33						chr17	TogoVar
USP3_chr15_63499593_63599633	63547722	TAGAGAGA others(43): Show TAGAGAGAGAGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGAGAGAGA G	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG01069.hp1 others(14): Show HG00642.hp1 HG00733.hp2 HG01069.hp1 HG01109.hp1 HG01168.hp1 HG01192.hp2 HG01884.hp1 HG01891.hp1 HG02257.hp1 HG02451.hp2 HG02622.hp1 HG02818.hp1 HG02922.hp2 HG03098.hp1 HG03139.hp1 HG03471.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0009 a0002c0002t0022 a0002c0002t0008 a0002c0002t0009 a0002c0002t0022	a0002c0002t0008g0012 a0002c0002t0008g0136 a0002c0002t0008g0137 others(10): Show a0002c0002t0008g0012 a0002c0002t0008g0136 a0002c0002t0008g0137 a0002c0002t0008g0138 a0002c0002t0008g0144 a0002c0002t0008g0145 a0002c0002t0008g0146 a0002c0002t0009g0010 a0002c0002t0009g0011 a0002c0002t0009g0131 a0002c0002t0009g0132 a0002c0002t0009g0135 a0002c0002t0022g0009	17	210	0.0810	-50	c.285 others(67): Show c.285-5970_285-5921delGGAGGGAGGGAGGGAGGGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAG		USP3	ENSG00000140455.17	transcript	ENST00000380324.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr15	TogoVar
USP40_chr2_233470526_233571782	233494931	TATATATA others(43): Show TATATATATATATATATATATATATTTATATATATATATATATATATATA C	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0018 a0018	a0018c0033 a0018c0033	a0018c0033t0014 a0018c0033t0014	a0018c0033t0014g0292 a0018c0033t0014g0292	1	322	0.0031	-50	c.279 others(69): Show c.2791-1430_2791-1381delGTATATATATATATATATATATATAA ATATATATATATATATATATATAT		USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding	24/31						chr2	TogoVar
USP40_chr2_233470526_233571782	233567738	ATAGTTAT others(43): Show ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG01081.hp1 others(2): Show HG00733.hp2 HG00735.hp1 HG01081.hp1 HG02257.hp2 HG03239.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0003 a0001c0001t0001 a0002c0002t0001 a0004c0004t0003	a0001c0001t0001g0202 a0001c0001t0001g0263 a0001c0001t0001g0290 others(2): Show a0001c0001t0001g0202 a0001c0001t0001g0263 a0001c0001t0001g0290 a0002c0002t0001g0181 a0004c0004t0003g0068	5	322	0.0155	-50	c.-11 others(61): Show c.-1124_-1075delATCTTATATAAGGTTATATAACTATAATCTTATA TAAGGTTATATAACTA		USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding					957		chr2	TogoVar
UXS1_chr2_106088311_106199301	106143387	CAACAGAG others(43): Show CAACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01496.hp1 HG01952.hp1 others(3): Show HG01099.hp2 HG01496.hp1 HG01952.hp1 HG01978.hp2 NA18947.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0076 a0001c0001t0001g0203 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0076 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0257	6	302	0.0199	-50	c.472 others(67): Show c.472+1753_472+1802delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCTCTCTGTT		UXS1	ENSG00000115652.15	transcript	ENST00000283148.12	protein_coding	6/14						chr2	TogoVar
VAMP1_chr12_6457237_6475677	6465364	ATATATAT others(43): Show ATATATATAAATGTATATATATGTATATATATATATAAATGTATATATAT G	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03139.hp2 HG02040.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0001 a0001c0002t0005g0082 a0001c0002t0003g0001 a0001c0002t0005g0082	2	444	0.0045	-50	c.288 others(65): Show c.288+428_289-424delCATATATATACATTTATATATATATATACA TATATATACATTTATATATA		VAMP1	ENSG00000139190.17	transcript	ENST00000396308.4	protein_coding	3/4						chr12	TogoVar
VASN_chr16_4366848_4388538	4380346	TAGTTTCC others(43): Show TAGTTTCCATGTGAAGTCTTCCCGCTGCATTCCCTCCTCCAAGGAGGGCG G	T T	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0012 a0012	a0012c0010 a0012c0010	a0012c0010t0006 a0012c0010t0006	a0012c0010t0006g0054 a0012c0010t0006g0054	1	354	0.0028	-50	c.-9- others(63): Show c.-9-522_-9-473delAGTTTCCATGTGAAGTCTTCCCGCTGCATTCC CTCCTCCAAGGAGGGCGG		VASN	ENSG00000168140.5	transcript	ENST00000304735.4	protein_coding	1/1						chr16	TogoVar
VAX2_chr2_70895576_70938446	70937030	TGCTCACT others(43): Show TGCTCACTGGAGTAAACCAGCATGGCCCGCCACAGCTATGCAAAGCCAGA G	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA19005.hp2 NA19010.hp1 NA18941.hp1 NA19005.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0145 a0001c0001t0001g0243 a0001c0001t0002g0250 a0001c0001t0001g0145 a0001c0001t0001g0243 a0001c0001t0002g0250	3	414	0.0072	-50	c.38 others(61): Show c.3827_*3876delGCTCACTGGAGTAAACCAGCATGGCCCGCCACAG CTATGCAAAGCCAGAG		VAX2	ENSG00000116035.4	transcript	ENST00000234392.3	protein_coding					3585		chr2	TogoVar
VAX2_chr2_70895576_70938446	70937072	AAGCCAGA others(43): Show AAGCCAGAGGCTCACTGGAGTAAACCAGCATGGCCCGCCACAGCTATGCA G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(300): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0006 others(6): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0002c0002 a0002c0004 a0003c0005 a0004c0008 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0001c0007t0002 a0002c0002t0001 a0002c0004t0001 a0003c0005t0001 a0004c0008t0001 a0005c0010t0002	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 others(227): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0103 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0222 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0114 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0162 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0181 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0211 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0226 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0257 a0001c0001t0002g0314 a0001c0001t0003g0083 a0001c0001t0004g0020 a0001c0003t0001g0271 a0001c0003t0001g0279 a0001c0003t0001g0281 a0001c0003t0001g0282 a0001c0003t0001g0302 a0001c0003t0001g0304 a0001c0003t0001g0307 a0001c0003t0002g0016 a0001c0003t0002g0044 a0001c0003t0002g0263 a0001c0003t0002g0273 a0001c0003t0002g0276 a0001c0003t0002g0277 a0001c0003t0002g0280 a0001c0003t0002g0283 a0001c0003t0002g0285 a0001c0003t0002g0286 a0001c0003t0002g0287 a0001c0003t0002g0288 a0001c0003t0002g0289 a0001c0003t0002g0290 a0001c0003t0002g0291 a0001c0003t0002g0299 a0001c0003t0002g0300 a0001c0003t0002g0305 a0001c0006t0001g0224 a0001c0006t0001g0225 a0001c0007t0002g0016 a0002c0002t0001g0008 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0274 a0002c0002t0001g0278 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0301 a0002c0002t0001g0306 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0004t0001g0012 a0002c0004t0001g0031 a0002c0004t0001g0032 a0002c0004t0001g0039 a0002c0004t0001g0051 a0002c0004t0001g0054 a0002c0004t0001g0109 a0002c0004t0001g0110 a0002c0004t0001g0111 a0002c0004t0001g0112 a0002c0004t0001g0113 a0002c0004t0001g0115 a0002c0004t0001g0121 a0002c0004t0001g0124 a0002c0004t0001g0134 a0002c0004t0001g0135 a0002c0004t0001g0136 a0002c0004t0001g0175 a0002c0004t0001g0185 a0002c0004t0001g0189 a0002c0004t0001g0210 a0002c0004t0001g0255 a0002c0004t0001g0310 a0003c0005t0001g0315 a0003c0005t0001g0316 a0004c0008t0001g0204 a0005c0010t0002g0010	303	424	0.7146	-50	c.38 others(61): Show c.3869_*3918delAGCCAGAGGCTCACTGGAGTAAACCAGCATGGCC CGCCACAGCTATGCAG		VAX2	ENSG00000116035.4	transcript	ENST00000234392.3	protein_coding					3627		chr2	TogoVar
VDR_chr12_47836537_47909994	47859878	CTTCCTTC others(43): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTTC T	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0293 a0001c0001t0055g0293	1	353	0.0028	-50	c.278 others(67): Show c.278-2240_278-2191delAGAAAAAGAAAGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAA		VDR	ENSG00000111424.12	transcript	ENST00000549336.6	protein_coding	4/9						chr12	TogoVar
VGLL4_chr3_11551069_11648915	11573271	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGA A	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01934.hp2 HG04228.hp1 others(1): Show HG01361.hp1 HG01934.hp2 HG04228.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0028 a0001c0001t0001g0044 a0001c0001t0001g0047 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0002g0271	4	371	0.0108	-50	c.273 others(67): Show c.273-8302_273-8253delTTCTTCCTTCCTTCCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT		VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4						chr3	TogoVar
VPREB1_chr22_22239786_22250515	22248851	TGGTTGAG others(43): Show TGGTTGAGGGGATGCAATTCAGCCTCCTTCCCATGACACAGCCTTTGAAG G	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	442	0.0023	-50	c.35 others(61): Show c.3515_*3564delGGTTGAGGGGATGCAATTCAGCCTCCTTCCCATG ACACAGCCTTTGAAGG		VPREB1	ENSG00000169575.5	transcript	ENST00000403807.4	protein_coding					3337		chr22	TogoVar
VPS13B_chr8_99008274_99882580	99028613	CGGGGGGC others(43): Show CGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCAGG T	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0082 a0001c0020t0002g0082	1	131	0.0076	-50	c.148 others(67): Show c.148-9792_148-9743delCACCTCCCTCCCGGACGGGGTGGCTGGC CAGGTGGGGGGCTGACCCCCCC		VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	2/61					INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13B_chr8_99008274_99882580	99360140	TTCTTTCT others(43): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0132 a0003c0005t0004g0132	1	132	0.0076	-50	c.282 others(71): Show c.2825-24064_2825-24015delTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTCT		VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	19/61					INFO_REALIGN_3_PRIME	chr8	TogoVar

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