Joint Open Genome and Omics Platform (JoGo)

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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
UIMC1_chr5_176900006_177011779	176911112	GAAGAAAA others(8): Show GAAGAAAAGAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01515.hp2 HG01517.hp2 others(17): Show HG00733.hp2 HG01515.hp2 HG01517.hp2 HG02257.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG03017.hp2 HG03041.hp1 HG03195.hp1 HG03491.hp1 HG03540.hp2 HG03579.hp1 HG03942.hp1 HG04184.hp1 NA18982.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19063.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0009 a0003c0004 others(1): Show a0001c0001 a0001c0009 a0003c0004 a0003c0006	a0001c0001t0001 a0001c0009t0001 a0003c0004t0001 others(2): Show a0001c0001t0001 a0001c0009t0001 a0003c0004t0001 a0003c0004t0002 a0003c0006t0001	a0001c0001t0001g0215 a0001c0001t0001g0230 a0001c0001t0001g0254 others(17): Show a0001c0001t0001g0215 a0001c0001t0001g0230 a0001c0001t0001g0254 a0001c0001t0001g0277 a0001c0001t0001g0294 a0001c0009t0001g0270 a0003c0004t0001g0026 a0003c0004t0001g0027 a0003c0004t0001g0168 a0003c0004t0001g0169 a0003c0004t0001g0174 a0003c0004t0001g0176 a0003c0004t0001g0177 a0003c0004t0001g0181 a0003c0004t0001g0184 a0003c0004t0001g0186 a0003c0004t0001g0195 a0003c0004t0002g0004 a0003c0006t0001g0017 a0003c0006t0001g0020	20	211	0.0948	-15	c.167 others(32): Show c.1676+184_1676+198delTTCTTTTCTTTTCTT	UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	11/14			chr5	TogoVar
ULBP3_chr6_150056053_150074121	150073174	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG01433.hp1 HG01928.hp1 others(6): Show HG00673.hp2 HG01433.hp1 HG01928.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02148.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	9	76	0.1184	-15	c.-41 others(26): Show c.-4123_-4109delAAAAAAAAAAAAAAA	ULBP3	ENSG00000131019.11	transcript	ENST00000367339.7	protein_coding		4054		chr6	TogoVar
ULK2_chr17_19765830_19872936	19821482	GAATGTAA others(8): Show GAATGTAAAAACGACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02004.hp1 HG00099.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0168 a0001c0001t0001g0169	2	286	0.0070	-15	c.924 others(32): Show c.924+3597_924+3611delTGTCGTTTTTACATT	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	12/26			chr17	TogoVar
ULK2_chr17_19765830_19872936	19824446	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02145.hp1 HG02615.hp2 others(4): Show HG00741.hp1 HG02145.hp1 HG02615.hp2 HG02723.hp1 HG03516.hp1 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0054 a0001c0006t0005g0055 a0001c0006t0005g0056 others(4): Show a0001c0006t0005g0054 a0001c0006t0005g0055 a0001c0006t0005g0056 a0001c0006t0005g0057 a0001c0006t0005g0058 a0001c0006t0005g0059 a0001c0006t0005g0060	7	163	0.0429	-15	c.924 others(30): Show c.924+633_924+647delTTTTTTTTTTTTTTT	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	12/26			chr17	TogoVar
ULK4_chr3_41241599_41967103	41353699	TTACTACT others(8): Show TTACTACTACTACTAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	12	0.0833	-15	c.367 others(36): Show c.3678+44365_3678+44379delGTAGTAGTAGTAGTA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41574531	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01081.hp2 HG01109.hp2 others(15): Show HG01071.hp1 HG01081.hp2 HG01109.hp2 HG01169.hp1 HG01243.hp1 HG01433.hp1 HG01891.hp2 HG02258.hp2 HG02451.hp1 HG02572.hp2 HG02735.hp1 HG02818.hp1 HG02976.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03540.hp1 NA18522.hp2	a0001 a0002 a0005 others(7): Show a0001 a0002 a0005 a0006 a0007 a0009 a0014 a0018 a0019 a0020	a0001c0001 a0002c0004 a0005c0013 others(7): Show a0001c0001 a0002c0004 a0005c0013 a0006c0007 a0007c0005 a0009c0008 a0014c0022 a0018c0021 a0019c0017 a0020c0018	a0001c0001t0001 a0001c0001t0003 a0002c0004t0002 others(8): Show a0001c0001t0001 a0001c0001t0003 a0002c0004t0002 a0005c0013t0002 a0006c0007t0001 a0007c0005t0001 a0009c0008t0002 a0014c0022t0001 a0018c0021t0001 a0019c0017t0001 a0020c0018t0001	a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0055 others(15): Show a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0003g0069 a0001c0001t0003g0070 a0002c0004t0002g0014 a0002c0004t0002g0015 a0002c0004t0002g0017 a0002c0004t0002g0019 a0005c0013t0002g0016 a0006c0007t0001g0023 a0007c0005t0001g0064 a0009c0008t0002g0020 a0009c0008t0002g0021 a0014c0022t0001g0029 a0018c0021t0001g0045 a0019c0017t0001g0022 a0020c0018t0001g0050	18	44	0.4091	-15	c.312 others(34): Show c.3121-8416_3121-8402delAAAAAAAAAAAAAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	31/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41602251	AAAAGGAA others(8): Show AAAAGGAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02976.hp1 HG01169.hp1 HG02976.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0001 a0008c0010t0002 a0001c0001t0001 a0008c0010t0002	a0001c0001t0001g0053 a0008c0010t0002g0056 a0001c0001t0001g0053 a0008c0010t0002g0056	2	12	0.1667	-15	c.312 others(36): Show c.3120+13403_3120+13417delCCTTTCCTTTCCTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	31/36			chr3	TogoVar
UMAD1_chr7_7635752_7884223	7638541	AAAAACAA others(8): Show AAAAACAAAACAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0225 a0001c0001t0021g0225	1	123	0.0081	-15	c.-23 others(26): Show c.-2343_-2329delAAAACAAAACAAAAC	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding		2210		chr7	TogoVar
UMAD1_chr7_7635752_7884223	7643720	AAAAAACA others(8): Show AAAAAACAAACAAACG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02132.hp2 HG02523.hp2 others(7): Show HG00741.hp2 HG02132.hp2 HG02523.hp2 HG03017.hp2 HG03486.hp1 NA18952.hp2 NA18968.hp1 NA18985.hp1 NA19058.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 others(5): Show a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0030 a0001c0001t0031 a0001c0001t0045 a0001c0001t0049 a0001c0001t0076	a0001c0001t0017g0247 a0001c0001t0022g0244 a0001c0001t0023g0245 others(7): Show a0001c0001t0017g0247 a0001c0001t0022g0244 a0001c0001t0023g0245 a0001c0001t0023g0249 a0001c0001t0030g0243 a0001c0001t0030g0248 a0001c0001t0031g0246 a0001c0001t0045g0212 a0001c0001t0049g0013 a0001c0001t0076g0218	10	248	0.0403	-15	c.-64 others(32): Show c.-64+2905_-64+2919delCAAACAAACGAAAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7673310	TAGCAGCA others(8): Show TAGCAGCAGCAGCAGC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01081.hp1 HG01884.hp1 HG02886.hp1 others(1): Show HG01081.hp1 HG01884.hp1 HG02886.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0072 a0001c0001t0074 a0001c0001t0084 others(1): Show a0001c0001t0072 a0001c0001t0074 a0001c0001t0084 a0001c0002t0073	a0001c0001t0072g0026 a0001c0001t0074g0240 a0001c0001t0084g0188 others(1): Show a0001c0001t0072g0026 a0001c0001t0074g0240 a0001c0001t0084g0188 a0001c0002t0073g0241	4	43	0.0930	-15	c.-15 others(21): Show c.-15_-1delGCAGCAGCAGCAGCA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/4	1	INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7741578	AAATAATA others(8): Show AAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	116	0.0086	-15	c.83- others(32): Show c.83-60068_83-60054delTAATAATAATAATAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7760412	AAATAATA others(8): Show AAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03704.hp1 HG03834.hp1 others(1): Show HG02615.hp2 HG03704.hp1 HG03834.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0045 a0001c0001t0001 a0001c0001t0004 a0001c0001t0045	a0001c0001t0001g0086 a0001c0001t0001g0242 a0001c0001t0004g0129 others(1): Show a0001c0001t0001g0086 a0001c0001t0001g0242 a0001c0001t0004g0129 a0001c0001t0045g0212	4	100	0.0400	-15	c.83- others(32): Show c.83-41230_83-41216delAATAATAATAATAAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7804983	GAAAACAA others(8): Show GAAAACAAAACAAAAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01243.hp1 HG02145.hp1 others(25): Show HG00140.hp2 HG01243.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp1 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03579.hp1 HG03654.hp2 NA18906.hp1 NA18984.hp2 NA19011.hp1 NA19030.hp2 NA19058.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(21): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0035 a0001c0001t0037 a0001c0001t0039 a0001c0001t0042 a0001c0001t0045 a0001c0001t0057 a0001c0001t0060 a0001c0001t0062 a0001c0001t0067 a0001c0001t0071 a0001c0001t0074 a0001c0001t0080 a0001c0004t0039	a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0061 others(25): Show a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0061 a0001c0001t0004g0012 a0001c0001t0007g0222 a0001c0001t0009g0098 a0001c0001t0009g0123 a0001c0001t0011g0065 a0001c0001t0016g0145 a0001c0001t0016g0146 a0001c0001t0017g0202 a0001c0001t0019g0119 a0001c0001t0022g0120 a0001c0001t0029g0226 a0001c0001t0030g0243 a0001c0001t0035g0228 a0001c0001t0037g0229 a0001c0001t0039g0160 a0001c0001t0042g0162 a0001c0001t0045g0212 a0001c0001t0057g0122 a0001c0001t0060g0213 a0001c0001t0062g0223 a0001c0001t0067g0227 a0001c0001t0071g0004 a0001c0001t0074g0240 a0001c0001t0080g0147 a0001c0004t0039g0159	28	63	0.4444	-15	c.156 others(32): Show c.156+3260_156+3274delCAAAACAAAACAAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7835462	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00741.hp1 HG01175.hp1 others(16): Show HG00544.hp2 HG00741.hp1 HG01175.hp1 HG01346.hp1 HG01981.hp2 HG02004.hp1 HG02056.hp1 HG02080.hp2 HG02280.hp1 HG02559.hp1 HG02976.hp1 HG03139.hp1 HG04204.hp2 NA18949.hp2 NA18959.hp2 NA19009.hp1 NA19058.hp2 NA19063.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(15): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0034 a0001c0001t0036 a0001c0001t0039 a0001c0001t0057 a0001c0001t0080 a0001c0001t0083 a0002c0003t0081	a0001c0001t0003g0208 a0001c0001t0004g0171 a0001c0001t0006g0094 others(16): Show a0001c0001t0003g0208 a0001c0001t0004g0171 a0001c0001t0006g0094 a0001c0001t0008g0058 a0001c0001t0008g0063 a0001c0001t0009g0185 a0001c0001t0011g0045 a0001c0001t0013g0104 a0001c0001t0014g0110 a0001c0001t0015g0140 a0001c0001t0016g0145 a0001c0001t0019g0192 a0001c0001t0034g0164 a0001c0001t0036g0231 a0001c0001t0039g0160 a0001c0001t0057g0122 a0001c0001t0080g0147 a0001c0001t0083g0130 a0002c0003t0081g0072	19	40	0.4750	-15	c.156 others(34): Show c.156+33743_156+33757delTTTTTTTTTTTTTTT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847101	AAAAATAT others(8): Show AAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02109.hp1 HG02145.hp1 HG01981.hp2 HG02109.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0079 a0001c0001t0001 a0001c0001t0019 a0001c0001t0079	a0001c0001t0001g0018 a0001c0001t0019g0192 a0001c0001t0079g0150 a0001c0001t0001g0018 a0001c0001t0019g0192 a0001c0001t0079g0150	3	204	0.0147	-15	c.157 others(34): Show c.157-30178_157-30164delAAATATATATATATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMPS_chr3_124725452_124754273	124726844	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA19067.hp1 NA18965.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0047 a0001c0001t0007g0002 a0001c0001t0007g0047	2	56	0.0357	-15	c.-36 others(26): Show c.-3627_-3613delAAAAAAAAAAAAAAA	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding		3607		chr3	TogoVar
UMPS_chr3_124725452_124754273	124746676	TGAGACTG others(8): Show TGAGACTGATGGAGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0125 a0001c0001t0071g0125	1	432	0.0023	-15	c.25 others(26): Show c.2597_*2611delCTGATGGAGTGGAGA	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding	6/6	2597	INFO_REALIGN_3_PRIME	chr3	TogoVar
UNC119B_chr12_120705458_120728640	120715521	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG04184.hp1 HG03942.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0036 a0001c0001t0002 a0001c0001t0036	a0001c0001t0002g0042 a0001c0001t0036g0054 a0001c0001t0002g0042 a0001c0001t0036g0054	2	8	0.2500	-15	c.359 others(32): Show c.359-1092_359-1078delTTTTTTTTTTTTTTT	UNC119B	ENSG00000175970.11	transcript	ENST00000344651.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
UNC119B_chr12_120705458_120728640	120728228	TGAGCCAC others(8): Show TGAGCCACCGTGCCCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	-15	c.81 others(26): Show c.8197_*8211delGAGCCACCGTGCCCG	UNC119B	ENSG00000175970.11	transcript	ENST00000344651.5	protein_coding		4589		chr12	TogoVar
UNC119_chr17_28541708_28557624	28549913	ACAGAGGC others(8): Show ACAGAGGCCTGGAAAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	384	0.0026	-15	c.221 others(32): Show c.221-1223_221-1209delATTTCCAGGCCTCTG	UNC119	ENSG00000109103.12	transcript	ENST00000335765.9	protein_coding	1/4			chr17	TogoVar
UNC13A_chr19_17596336_17693354	17670907	GTAAAATA others(8): Show GTAAAATAAAATAAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00438.hp2 others(45): Show HG00099.hp1 HG00280.hp2 HG00438.hp2 HG00597.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01109.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01258.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01975.hp2 HG01978.hp2 HG02257.hp1 HG02273.hp1 HG02572.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG03209.hp1 HG03209.hp2 HG03710.hp1 HG03710.hp2 HG04204.hp2 NA18944.hp1 NA18952.hp1 NA18962.hp1 NA18991.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19070.hp2 NA19240.hp1 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0014 a0001c0015 a0001c0020 a0001c0022 a0001c0024 a0001c0028 a0001c0044 a0001c0046 a0001c0053 a0001c0054 a0001c0055 a0001c0058 a0001c0071 a0002c0006 a0002c0017 a0002c0034 a0004c0049	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(31): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0001c0002t0015 a0001c0002t0018 a0001c0002t0025 a0001c0002t0038 a0001c0002t0045 a0001c0003t0001 a0001c0003t0003 a0001c0003t0016 a0001c0003t0017 a0001c0007t0001 a0001c0014t0001 a0001c0015t0006 a0001c0020t0001 a0001c0020t0005 a0001c0022t0008 a0001c0024t0019 a0001c0028t0002 a0001c0044t0001 a0001c0046t0001 a0001c0053t0023 a0001c0054t0009 a0001c0055t0001 a0001c0058t0001 a0001c0071t0002 a0002c0006t0001 a0002c0017t0013 a0002c0034t0002 a0004c0049t0006	a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0249 others(45): Show a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0249 a0001c0001t0001g0268 a0001c0002t0001g0113 a0001c0002t0001g0308 a0001c0002t0004g0224 a0001c0002t0008g0046 a0001c0002t0010g0097 a0001c0002t0012g0291 a0001c0002t0015g0054 a0001c0002t0018g0269 a0001c0002t0025g0315 a0001c0002t0038g0037 a0001c0002t0045g0164 a0001c0003t0001g0014 a0001c0003t0001g0040 a0001c0003t0001g0066 a0001c0003t0001g0213 a0001c0003t0001g0288 a0001c0003t0001g0292 a0001c0003t0001g0294 a0001c0003t0001g0305 a0001c0003t0003g0133 a0001c0003t0016g0149 a0001c0003t0017g0049 a0001c0007t0001g0062 a0001c0014t0001g0081 a0001c0014t0001g0125 a0001c0014t0001g0254 a0001c0015t0006g0090 a0001c0015t0006g0303 a0001c0020t0001g0005 a0001c0020t0005g0076 a0001c0022t0008g0185 a0001c0024t0019g0100 a0001c0028t0002g0196 a0001c0044t0001g0301 a0001c0046t0001g0280 a0001c0053t0023g0053 a0001c0054t0009g0290 a0001c0055t0001g0102 a0001c0058t0001g0105 a0001c0071t0002g0311 a0002c0006t0001g0021 a0002c0017t0013g0023 a0002c0034t0002g0099 a0004c0049t0006g0293	48	144	0.3333	-15	c.271 others(32): Show c.271-1246_271-1232delTTTTATTTTATTTTA	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	4/43			chr19	TogoVar
UNC13A_chr19_17596336_17693354	17691301	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 NA19043.hp2 NA20300.hp1 HG02965.hp1 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0024 a0001c0002 a0001c0024	a0001c0002t0003 a0001c0002t0010 a0001c0024t0019 a0001c0002t0003 a0001c0002t0010 a0001c0024t0019	a0001c0002t0003g0096 a0001c0002t0010g0097 a0001c0024t0019g0100 a0001c0002t0003g0096 a0001c0002t0010g0097 a0001c0024t0019g0100	3	109	0.0275	-15	c.-31 others(26): Show c.-3117_-3103delAAAAAAAAAAAAAAA	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding		2948		chr19	TogoVar
UNC13C_chr15_53973441_54633605	54172709	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0098 a0001c0002t0023g0098	1	141	0.0071	-15	c.307 others(36): Show c.3071+29026_3071+29040delATATATATATATATA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32			chr15	TogoVar
UNC13C_chr15_53973441_54633605	54261522	GTTTGTTT others(8): Show GTTTGTTTTGTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0150 a0001c0001t0011g0150	1	70	0.0143	-15	c.344 others(34): Show c.3449-2621_3449-2607delTTTTGTTTTGTTTTG	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455237	ATGTTTTT others(8): Show ATGTTTTTTAATCCAC	A A	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0004 a0002c0018t0004	a0002c0018t0004g0048 a0002c0018t0004g0048	1	156	0.0064	-15	c.493 others(36): Show c.4934-39369_4934-39355delGTTTTTTAATCCACT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54475281	TTTATTAT others(8): Show TTTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00735.hp1 HG01109.hp2 others(38): Show HG00423.hp1 HG00735.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp1 HG01243.hp2 HG01358.hp2 HG01361.hp2 HG02155.hp2 HG02258.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp2 HG03492.hp2 HG04199.hp2 NA18522.hp2 NA18939.hp1 NA18947.hp1 NA18952.hp1 NA18953.hp2 NA18964.hp2 NA18979.hp1 NA18989.hp1 NA18993.hp2 NA19081.hp1 NA20129.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0021 a0001c0034 a0001c0035 a0001c0040 a0001c0041 a0002c0016 a0002c0019 a0003c0037 a0003c0038 a0004c0009 a0005c0011 a0011c0024 a0012c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0025 a0001c0001t0030 a0001c0002t0008 a0001c0002t0024 a0001c0002t0060 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0003t0010 a0001c0003t0021 a0001c0004t0028 a0001c0004t0052 a0001c0004t0055 a0001c0007t0001 a0001c0007t0012 a0001c0007t0016 a0001c0021t0013 a0001c0034t0058 a0001c0035t0001 a0001c0040t0026 a0001c0041t0025 a0002c0016t0004 a0002c0019t0031 a0002c0019t0054 a0003c0037t0008 a0003c0038t0011 a0004c0009t0005 a0005c0011t0003 a0011c0024t0028 a0012c0025t0018	a0001c0001t0001g0004 a0001c0001t0002g0067 a0001c0001t0006g0137 others(38): Show a0001c0001t0001g0004 a0001c0001t0002g0067 a0001c0001t0006g0137 a0001c0001t0025g0003 a0001c0001t0030g0142 a0001c0002t0008g0081 a0001c0002t0024g0116 a0001c0002t0060g0146 a0001c0003t0001g0019 a0001c0003t0003g0065 a0001c0003t0004g0011 a0001c0003t0005g0120 a0001c0003t0005g0128 a0001c0003t0009g0110 a0001c0003t0009g0114 a0001c0003t0009g0119 a0001c0003t0010g0009 a0001c0003t0010g0023 a0001c0003t0010g0026 a0001c0003t0021g0155 a0001c0004t0028g0148 a0001c0004t0052g0036 a0001c0004t0055g0095 a0001c0007t0001g0029 a0001c0007t0012g0154 a0001c0007t0016g0135 a0001c0021t0013g0038 a0001c0021t0013g0039 a0001c0034t0058g0149 a0001c0035t0001g0001 a0001c0040t0026g0027 a0001c0041t0025g0156 a0002c0016t0004g0053 a0002c0019t0031g0071 a0002c0019t0054g0059 a0003c0037t0008g0094 a0003c0038t0011g0002 a0004c0009t0005g0132 a0005c0011t0003g0072 a0011c0024t0028g0017 a0012c0025t0018g0030	41	57	0.7193	-15	c.493 others(36): Show c.4934-19298_4934-19284delTATTATTATTATTAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5A_chr5_176805559_176885898	176808458	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0007 a0001c0001t0017g0007	1	266	0.0038	-15	c.-22 others(26): Show c.-2292_-2278delTGTGTGTGTGTGTGT	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding		2100		chr5	TogoVar
UNC5C_chr4_95157504_95553973	95201729	GAGTAGCT others(8): Show GAGTAGCTGGGACTAC	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0159 a0001c0004t0018g0159	1	204	0.0049	-15	c.213 others(33): Show c.2136+987_2136+1001delGTAGTCCCAGCTACT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95433856	ACTCATCT others(8): Show ACTCATCTTCAGCCTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01515.hp2 others(5): Show HG00639.hp1 HG00639.hp2 HG01515.hp2 HG02055.hp2 HG03540.hp1 HG03654.hp1 HG03834.hp2 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0001c0005 a0001c0010 others(4): Show a0001c0003 a0001c0005 a0001c0010 a0002c0001 a0002c0008 a0002c0026 a0005c0038	a0001c0003t0001 a0001c0005t0039 a0001c0010t0010 others(5): Show a0001c0003t0001 a0001c0005t0039 a0001c0010t0010 a0002c0001t0002 a0002c0001t0017 a0002c0008t0001 a0002c0026t0002 a0005c0038t0002	a0001c0003t0001g0111 a0001c0005t0039g0203 a0001c0010t0010g0001 others(5): Show a0001c0003t0001g0111 a0001c0005t0039g0203 a0001c0010t0010g0001 a0002c0001t0002g0102 a0002c0001t0017g0204 a0002c0008t0001g0029 a0002c0026t0002g0050 a0005c0038t0002g0153	8	204	0.0392	-15	c.125 others(34): Show c.125-98240_125-98226delAAGGCTGAAGATGAG	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95467603	CCTGTGTC others(8): Show CCTGTGTCTGCATAGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp2 HG02896.hp1 others(5): Show HG02257.hp1 HG02486.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03209.hp2 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0010 others(1): Show a0001c0003 a0001c0005 a0001c0010 a0001c0011	a0001c0003t0001 a0001c0005t0001 a0001c0010t0004 others(2): Show a0001c0003t0001 a0001c0005t0001 a0001c0010t0004 a0001c0010t0014 a0001c0011t0004	a0001c0003t0001g0184 a0001c0005t0001g0043 a0001c0010t0004g0192 others(5): Show a0001c0003t0001g0184 a0001c0005t0001g0043 a0001c0010t0004g0192 a0001c0010t0004g0193 a0001c0010t0014g0040 a0001c0010t0014g0186 a0001c0011t0004g0047 a0001c0011t0004g0066	8	204	0.0392	-15	c.124 others(34): Show c.124+81116_124+81130delACTATGCAGACACAG	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95483004	TATAATAA others(8): Show TATAATAATAATAATA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG04228.hp1 HG00544.hp2 HG04228.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0001 a0001c0006t0001 a0001c0004t0001 a0001c0006t0001	a0001c0004t0001g0009 a0001c0006t0001g0007 a0001c0004t0001g0009 a0001c0006t0001g0007	2	35	0.0571	-15	c.124 others(34): Show c.124+65715_124+65729delTATTATTATTATTAT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95511903	TGGAAGAA others(8): Show TGGAAGAAGATTCAAG	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0056 a0001c0023t0001g0056	1	204	0.0049	-15	c.124 others(34): Show c.124+36816_124+36830delCTTGAATCTTCTTCC	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35249559	AAATAATA others(8): Show AAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02976.hp2 HG01123.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0005 a0001c0001t0001 a0001c0003t0005	a0001c0001t0001g0061 a0001c0003t0005g0033 a0001c0001t0001g0061 a0001c0003t0005g0033	2	8	0.2500	-15	c.103 others(34): Show c.103+13702_103+13716delTAATAATAATAATAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35457339	TTTAAATT others(8): Show TTTAAATTTTGATTCC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG02976.hp2 others(2): Show HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03225.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0002 a0001c0002t0006 a0001c0003t0005 others(2): Show a0001c0001t0002 a0001c0002t0006 a0001c0003t0005 a0001c0004t0022 a0002c0005t0017	a0001c0001t0002g0029 a0001c0002t0006g0055 a0001c0003t0005g0033 others(2): Show a0001c0001t0002g0029 a0001c0002t0006g0055 a0001c0003t0005g0033 a0001c0004t0022g0050 a0002c0005t0017g0030	5	64	0.0781	-15	c.104 others(34): Show c.104-91949_104-91935delAATTTTGATTCCTTA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35498079	CAAAACAA others(8): Show CAAAACAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	28	0.0357	-15	c.104 others(34): Show c.104-51208_104-51194delCAAAAAAAAAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35524648	AAAAAAAA others(8): Show AAAAAAAAGAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0031 a0001c0006t0004g0031	1	64	0.0156	-15	c.104 others(34): Show c.104-24637_104-24623delAGAAAAAAGAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC79_chr14_93425939_93712876	93467628	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0162 a0001c0023t0001g0162	1	8	0.1250	-15	c.23- others(26): Show c.23-27_23-13delTTTTTTTTTTTTTTT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93558593	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02886.hp1 HG03098.hp1 others(1): Show HG02109.hp1 HG02886.hp1 HG03098.hp1 HG03225.hp2	a0001 a0003 a0001 a0003	a0001c0011 a0001c0023 a0003c0004 a0001c0011 a0001c0023 a0003c0004	a0001c0011t0001 a0001c0023t0001 a0003c0004t0001 a0001c0011t0001 a0001c0023t0001 a0003c0004t0001	a0001c0011t0001g0156 a0001c0023t0001g0164 a0003c0004t0001g0124 others(1): Show a0001c0011t0001g0156 a0001c0023t0001g0164 a0003c0004t0001g0124 a0003c0004t0001g0126	4	6	0.6667	-15	c.175 others(36): Show c.1756-13271_1756-13257delTTTTTTTTTTTTTTT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	14/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93663910	TTTCTATG others(8): Show TTTCTATGTTGTACAC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02895.hp2 HG02896.hp1 others(5): Show HG01255.hp2 HG02895.hp2 HG02896.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0019 a0001c0021 others(2): Show a0001c0002 a0001c0019 a0001c0021 a0001c0041 a0001c0042	a0001c0002t0001 a0001c0019t0001 a0001c0021t0001 others(2): Show a0001c0002t0001 a0001c0019t0001 a0001c0021t0001 a0001c0041t0001 a0001c0042t0001	a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 others(5): Show a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0019t0001g0002 a0001c0021t0001g0190 a0001c0021t0001g0192 a0001c0041t0001g0014 a0001c0042t0001g0119	8	192	0.0417	-15	c.696 others(34): Show c.6969+1198_6969+1212delTCTATGTTGTACACT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	43/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC93B1_chr11_67986100_68009097	67987215	GTAAAATA others(8): Show GTAAAATAAAATAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG03540.hp2 HG00639.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0004 a0001c0002t0002g0179 a0001c0001t0001g0004 a0001c0002t0002g0179	2	180	0.0111	-15	c.43 others(26): Show c.4316_*4330delTTTTATTTTATTTTA	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding		3884		chr11	TogoVar
UNKL_chr16_1358205_1419704	1359689	GTCCTCTG others(8): Show GTCCTCTGAGACTCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0069 a0002c0002t0069	a0002c0002t0069g0188 a0002c0002t0069g0188	1	320	0.0031	-15	c.65 others(26): Show c.6536_*6550delGGGAGTCTCAGAGGA	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding		3515		chr16	TogoVar
UNKL_chr16_1358205_1419704	1405194	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp2 NA19054.hp2 others(1): Show HG02896.hp1 HG02896.hp2 NA19054.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0013 a0002c0002t0062 a0001c0001t0001 a0001c0001t0013 a0002c0002t0062	a0001c0001t0001g0117 a0001c0001t0001g0186 a0001c0001t0013g0020 others(1): Show a0001c0001t0001g0117 a0001c0001t0001g0186 a0001c0001t0013g0020 a0002c0002t0062g0086	4	9	0.4444	-15	c.288 others(32): Show c.288-1865_288-1851delTTTTTTTTTTTTTTT	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	2/14			chr16	TogoVar
UNKL_chr16_1358205_1419704	1413243	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01261.hp1 HG01891.hp1 others(8): Show HG01243.hp2 HG01261.hp1 HG01891.hp1 HG01978.hp2 HG02055.hp1 HG02258.hp1 HG02615.hp2 HG02630.hp1 HG03471.hp2 HG03486.hp1 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0014 a0002c0002t0023	a0001c0001t0001g0294 a0001c0001t0002g0292 a0001c0001t0003g0291 others(8): Show a0001c0001t0001g0294 a0001c0001t0002g0292 a0001c0001t0003g0291 a0001c0001t0004g0286 a0001c0001t0004g0305 a0001c0001t0011g0293 a0001c0001t0014g0285 a0001c0001t0014g0287 a0001c0001t0014g0288 a0001c0001t0014g0289 a0002c0002t0023g0290	11	16	0.6875	-15	c.287 others(30): Show c.287+588_287+602delTTTTTTTTTTTTTTT	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	2/14			chr16	TogoVar
UNKL_chr16_1358205_1419704	1414878	CGCCCTGC others(8): Show CGCCCTGCCCTGCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0053 a0001c0012t0053	a0001c0012t0053g0015 a0001c0012t0053g0015	1	26	0.0385	-15	c.-20 others(24): Show c.-202_-188delAGGGCAGGGCAGGGC	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding		175		chr16	TogoVar
UNK_chr17_75779806_75830799	75782993	TCAAAAAA others(8): Show TCAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	129	0.0078	-15	c.-18 others(26): Show c.-1887_-1873delCAAAAAAAAAAAAAA	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding		1812		chr17	TogoVar
UNK_chr17_75779806_75830799	75801823	GTGAGCCA others(8): Show GTGAGCCACTGCACCC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00735.hp2 others(54): Show HG00280.hp1 HG00544.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG02015.hp1 HG02109.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02886.hp2 HG02895.hp2 HG03017.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18952.hp1 NA18964.hp1 NA18966.hp1 NA18978.hp1 NA18992.hp2 NA19002.hp1 NA19055.hp1 NA19084.hp1 NA19085.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0013 a0001c0021 a0003c0025 a0004c0020	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0009 a0001c0002t0014 a0001c0003t0004 a0001c0010t0003 a0001c0013t0001 a0001c0021t0001 a0003c0025t0001 a0004c0020t0003	a0001c0001t0001g0188 a0001c0001t0003g0028 a0001c0001t0003g0031 others(52): Show a0001c0001t0001g0188 a0001c0001t0003g0028 a0001c0001t0003g0031 a0001c0001t0003g0050 a0001c0001t0003g0055 a0001c0001t0003g0058 a0001c0001t0003g0077 a0001c0001t0003g0184 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0002t0001g0003 a0001c0002t0001g0022 a0001c0002t0001g0029 a0001c0002t0001g0041 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0076 a0001c0002t0001g0172 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0195 a0001c0002t0001g0208 a0001c0002t0001g0218 a0001c0002t0001g0221 a0001c0002t0001g0327 a0001c0002t0009g0078 a0001c0002t0009g0079 a0001c0002t0009g0080 a0001c0002t0009g0081 a0001c0002t0009g0222 a0001c0002t0014g0194 a0001c0003t0004g0171 a0001c0010t0003g0027 a0001c0010t0003g0030 a0001c0010t0003g0051 a0001c0010t0003g0059 a0001c0010t0003g0283 a0001c0013t0001g0017 a0001c0013t0001g0186 a0001c0021t0001g0003 a0003c0025t0001g0017 a0004c0020t0003g0052	57	356	0.1601	-15	c.105 others(32): Show c.105-7936_105-7922delTGAGCCACTGCACCC	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding	1/15			chr17	TogoVar
UPB1_chr22_24490332_24533390	24509361	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03195.hp2 HG03516.hp2 HG02572.hp2 HG03195.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0022 a0001c0001t0001 a0001c0001t0004 a0001c0001t0022	a0001c0001t0001g0251 a0001c0001t0004g0244 a0001c0001t0022g0235 a0001c0001t0001g0251 a0001c0001t0004g0244 a0001c0001t0022g0235	3	60	0.0500	-15	c.365 others(32): Show c.365-1367_365-1353delAAAAAAAAAAAAAAA	UPB1	ENSG00000100024.15	transcript	ENST00000326010.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
UPF2_chr10_11915022_12047809	11938853	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01099.hp1 HG01106.hp1 others(43): Show HG01070.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01978.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp2 HG02165.hp1 HG02602.hp2 HG02698.hp1 HG02738.hp2 HG03130.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG04204.hp1 NA18939.hp1 NA18947.hp1 NA18949.hp2 NA18952.hp1 NA18954.hp2 NA18963.hp2 NA18971.hp1 NA18986.hp2 NA18987.hp2 NA18994.hp2 NA18997.hp2 NA19002.hp1 NA19011.hp1 NA19054.hp1 NA19056.hp2 NA19060.hp1 NA19068.hp1 NA19079.hp2 NA19082.hp2 NA19084.hp1 NA19088.hp2 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001	a0001c0001t0001g0204 a0001c0001t0002g0001 a0001c0001t0002g0004 others(42): Show a0001c0001t0001g0204 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0148 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0005g0151 a0001c0001t0005g0176 a0001c0001t0005g0179 a0001c0001t0005g0180 a0001c0001t0005g0191 a0001c0001t0014g0203 a0001c0001t0015g0178 a0001c0002t0001g0275	46	108	0.4259	-15	c.337 others(34): Show c.3379-2156_3379-2142delAAAAAAAAAAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	11987761	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01981.hp1 HG01258.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0099 a0001c0001t0001g0080 a0001c0001t0001g0099	2	95	0.0211	-15	c.184 others(34): Show c.1845-8611_1845-8597delTTTTTTTTTTTTTTT	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	8/21			chr10	TogoVar
UPK1A_chr19_35661517_35683481	35667306	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(229): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01361.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0010	a0001c0001 a0001c0008 a0001c0009 others(7): Show a0001c0001 a0001c0008 a0001c0009 a0002c0002 a0003c0004 a0003c0005 a0004c0003 a0006c0013 a0007c0010 a0010c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0008t0001 a0001c0009t0001 a0002c0002t0001 a0003c0004t0001 a0003c0004t0002 a0003c0005t0002 a0004c0003t0001 a0006c0013t0002 a0007c0010t0002 a0010c0015t0001	a0001c0001t0001g0010 a0001c0001t0001g0044 a0001c0001t0001g0052 others(129): Show a0001c0001t0001g0010 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0123 a0001c0001t0001g0144 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0029 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0122 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0003g0002 a0001c0001t0004g0055 a0001c0008t0001g0183 a0001c0008t0001g0184 a0001c0008t0001g0185 a0001c0008t0001g0186 a0001c0009t0001g0067 a0001c0009t0001g0068 a0002c0002t0001g0196 a0002c0002t0001g0216 a0003c0004t0001g0008 a0003c0004t0001g0161 a0003c0004t0001g0164 a0003c0004t0001g0168 a0003c0004t0001g0169 a0003c0004t0001g0170 a0003c0004t0001g0175 a0003c0004t0001g0179 a0003c0004t0001g0180 a0003c0004t0002g0007 a0003c0004t0002g0015 a0003c0004t0002g0028 a0003c0004t0002g0049 a0003c0004t0002g0050 a0003c0004t0002g0051 a0003c0004t0002g0061 a0003c0004t0002g0162 a0003c0004t0002g0165 a0003c0004t0002g0166 a0003c0004t0002g0167 a0003c0004t0002g0171 a0003c0004t0002g0172 a0003c0004t0002g0173 a0003c0004t0002g0174 a0003c0004t0002g0176 a0003c0004t0002g0177 a0003c0004t0002g0178 a0003c0004t0002g0181 a0003c0004t0002g0182 a0003c0005t0002g0004 a0003c0005t0002g0027 a0003c0005t0002g0048 a0003c0005t0002g0155 a0003c0005t0002g0156 a0003c0005t0002g0157 a0003c0005t0002g0158 a0003c0005t0002g0159 a0004c0003t0001g0005 a0004c0003t0001g0019 a0004c0003t0001g0020 a0004c0003t0001g0021 a0004c0003t0001g0031 a0004c0003t0001g0032 a0004c0003t0001g0033 a0004c0003t0001g0034 a0004c0003t0001g0035 a0004c0003t0001g0036 a0004c0003t0001g0069 a0004c0003t0001g0071 a0004c0003t0001g0072 a0004c0003t0001g0073 a0004c0003t0001g0074 a0004c0003t0001g0075 a0004c0003t0001g0076 a0004c0003t0001g0077 a0004c0003t0001g0078 a0004c0003t0001g0079 a0004c0003t0001g0080 a0004c0003t0001g0081 a0004c0003t0001g0082 a0004c0003t0001g0083 a0004c0003t0001g0084 a0004c0003t0001g0085 a0004c0003t0001g0086 a0004c0003t0001g0087 a0004c0003t0001g0089 a0004c0003t0001g0091 a0006c0013t0002g0218 a0007c0010t0002g0163 a0010c0015t0001g0070	232	356	0.6517	-15	c.84+ others(28): Show c.84+440_84+454delGTTTTGTTTTGTTTT	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar

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