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	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ULK4_chr3_41241599_41967103	41348206	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02818.hp2 HG03540.hp1 others(1): Show HG02258.hp2 HG02818.hp2 HG03540.hp1 NA19043.hp2	a0004 a0009 a0004 a0009	a0004c0002 a0009c0008 a0004c0002 a0009c0008	a0004c0002t0001 a0004c0002t0002 a0009c0008t0002 a0004c0002t0001 a0004c0002t0002 a0009c0008t0002	a0004c0002t0001g0006 a0004c0002t0002g0007 a0009c0008t0002g0020 others(1): Show a0004c0002t0001g0006 a0004c0002t0002g0007 a0009c0008t0002g0020 a0009c0008t0002g0021	4	43	0.0930	12	c.367 others(33): Show c.3678+49861_3678+49872dupTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41412553	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	18	0.0556	12	c.349 others(33): Show c.3493-14301_3493-14290dupAAAAAAAAAAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	34/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41420475	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01515.hp1 HG01169.hp1 HG01515.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0053 a0003c0003t0001g0060 a0001c0001t0001g0053 a0003c0003t0001g0060	2	11	0.1818	12	c.349 others(33): Show c.3493-22223_3493-22212dupAAAAAAAAAAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	34/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41473661	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03486.hp2 HG02970.hp2 HG03486.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0001 a0005c0006t0004g0003 a0005c0006t0004g0001 a0005c0006t0004g0003	2	63	0.0317	12	c.322 others(33): Show c.3227-10409_3227-10408insTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41484458	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0060 a0003c0003t0001g0060	1	40	0.0250	12	c.322 others(33): Show c.3227-21206_3227-21205insAAAAAAAAAAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41506764	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0002 a0005c0006t0004g0002	1	55	0.0182	12	c.322 others(33): Show c.3227-43512_3227-43511insTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41506767	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG04115.hp2 HG06807.hp2 HG02622.hp1 HG04115.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052	3	23	0.1304	12	c.322 others(33): Show c.3227-43526_3227-43515dupATATATATATAT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41657818	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01243.hp2 HG01433.hp2 others(5): Show HG01071.hp1 HG01243.hp2 HG01433.hp2 HG02257.hp1 HG02622.hp1 HG02970.hp1 HG06807.hp2 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0002 a0001c0001 a0004c0002	a0001c0001t0001 a0004c0002t0001 a0004c0002t0002 a0001c0001t0001 a0004c0002t0001 a0004c0002t0002	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0049 others(5): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0004c0002t0001g0006 a0004c0002t0002g0008 a0004c0002t0002g0009	8	15	0.5333	12	c.307 others(31): Show c.3071+5777_3071+5788dupTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	30/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41708177	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0002 a0005c0013t0002	a0005c0013t0002g0016 a0005c0013t0002g0016	1	34	0.0294	12	c.263 others(31): Show c.2635-2884_2635-2873dupATATATATATAT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	25/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41714852	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02970.hp2 HG02976.hp1 others(3): Show HG02622.hp2 HG02970.hp2 HG02976.hp1 HG03486.hp2 HG04184.hp2 NA18522.hp1	a0003 a0004 a0005 others(1): Show a0003 a0004 a0005 a0008	a0003c0003 a0004c0002 a0005c0006 others(1): Show a0003c0003 a0004c0002 a0005c0006 a0008c0010	a0003c0003t0001 a0004c0002t0005 a0005c0006t0004 others(1): Show a0003c0003t0001 a0004c0002t0005 a0005c0006t0004 a0008c0010t0002	a0003c0003t0001g0061 a0004c0002t0005g0068 a0005c0006t0004g0001 others(3): Show a0003c0003t0001g0061 a0004c0002t0005g0068 a0005c0006t0004g0001 a0005c0006t0004g0002 a0005c0006t0004g0003 a0008c0010t0002g0056	6	42	0.1429	12	c.263 others(29): Show c.2634+373_2634+384dupTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	25/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41716216	A A	AAATAATA others(5): Show AAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01891.hp2 HG02818.hp1 others(1): Show HG00735.hp1 HG01891.hp2 HG02818.hp1 HG06807.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0004 a0002c0009 others(1): Show a0001c0001 a0002c0004 a0002c0009 a0007c0005	a0001c0001t0001 a0002c0004t0002 a0002c0009t0002 others(1): Show a0001c0001t0001 a0002c0004t0002 a0002c0009t0002 a0007c0005t0001	a0001c0001t0001g0055 a0002c0004t0002g0014 a0002c0009t0002g0012 others(1): Show a0001c0001t0001g0055 a0002c0004t0002g0014 a0002c0009t0002g0012 a0007c0005t0001g0066	4	14	0.2857	12	c.245 others(29): Show c.2456-660_2456-649dupATTATTATTATT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	23/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41721279	T T	TTTTTTTT others(5): Show TTTTTTTTTTTGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0002 a0004c0002t0002	a0004c0002t0002g0009 a0004c0002t0002g0009	1	47	0.0213	12	c.232 others(31): Show c.2322-3419_2322-3418insCCAAAAAAAAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	22/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41721333	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01891.hp1 HG01169.hp1 HG01891.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0015 a0001c0001 a0016c0015	a0001c0001t0001 a0016c0015t0001 a0001c0001t0001 a0016c0015t0001	a0001c0001t0001g0053 a0016c0015t0001g0005 a0001c0001t0001g0053 a0016c0015t0001g0005	2	53	0.0377	12	c.232 others(31): Show c.2322-3484_2322-3473dupATATATATATAT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	22/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41735687	T T	TTTATTAT others(5): Show TTTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01081.hp1 HG01106.hp2 others(10): Show HG01071.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01433.hp2 HG01934.hp1 HG01934.hp2 HG02145.hp2 HG02895.hp1 HG03486.hp2 HG03540.hp1 HG04184.hp1 NA19043.hp1	a0001 a0005 a0009 others(2): Show a0001 a0005 a0009 a0012 a0021	a0001c0001 a0005c0006 a0009c0008 others(2): Show a0001c0001 a0005c0006 a0009c0008 a0012c0020 a0021c0019	a0001c0001t0001 a0005c0006t0004 a0009c0008t0002 others(2): Show a0001c0001t0001 a0005c0006t0004 a0009c0008t0002 a0012c0020t0001 a0021c0019t0003	a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0035 others(10): Show a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0048 a0005c0006t0004g0003 a0009c0008t0002g0021 a0012c0020t0001g0037 a0021c0019t0003g0071	13	43	0.3023	12	c.232 others(33): Show c.2322-17838_2322-17827dupTAATAATAATAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	22/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41794660	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01934.hp1 HG04115.hp1 HG01243.hp1 HG01934.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0003g0070 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0003g0070	3	25	0.1200	12	c.201 others(31): Show c.2011-4829_2011-4818dupTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	20/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41831008	T T	TTTTATTT others(5): Show TTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0012 a0002c0009t0002g0012	1	37	0.0270	12	c.176 others(31): Show c.1764+4855_1764+4856insTAAATAAATAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	18/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41840366	G G	GCCCTCTC others(5): Show GCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0020 a0020	a0020c0018 a0020c0018	a0020c0018t0001 a0020c0018t0001	a0020c0018t0001g0050 a0020c0018t0001g0050	1	70	0.0143	12	c.165 others(31): Show c.1657-4407_1657-4396dupAGAGGGAGAGGG	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	17/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41890789	G G	GATGGGGG others(5): Show GATGGGGGAAGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03540.hp2 HG02622.hp2 HG03540.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0005 a0004c0002t0005	a0004c0002t0005g0067 a0004c0002t0005g0068 a0004c0002t0005g0067 a0004c0002t0005g0068	2	70	0.0286	12	c.157 others(31): Show c.1577+4728_1577+4729insTCCTTCCCCCAT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	16/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41935209	A A	ATTTATTT others(5): Show ATTTATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0001 a0007c0005t0001	a0007c0005t0001g0066 a0007c0005t0001g0066	1	9	0.1111	12	c.378 others(27): Show c.378+591_378+592insAAAAAAAATAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	4/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41953285	C C	CACACATA others(5): Show CACACATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0018 a0018	a0018c0021 a0018c0021	a0018c0021t0001 a0018c0021t0001	a0018c0021t0001g0045 a0018c0021t0001g0045	1	33	0.0303	12	c.138 others(29): Show c.138+1336_138+1337insATATATATGTGT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	2/36						chr3	TogoVar
ULK4_chr3_41241599_41967103	41953285	C C	CACATATA others(5): Show CACATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02145.hp2 HG02165.hp1 others(1): Show HG00735.hp2 HG02145.hp2 HG02165.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0043 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044	4	36	0.1111	12	c.138 others(29): Show c.138+1336_138+1337insATATATATATGT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	2/36						chr3	TogoVar
UMAD1_chr7_7635752_7884223	7673310	T T	TAGCAGCA others(5): Show TAGCAGCAGCAGC	start_lost others(1): Show start_lost conservative_inframe_insertion	HIGH	HG01192.hp2 HG01243.hp1 HG03209.hp1 others(2): Show HG01192.hp2 HG01243.hp1 HG03209.hp1 NA18985.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0045 a0001c0001t0046 a0001c0001t0022 a0001c0001t0045 a0001c0001t0046	a0001c0001t0022g0120 a0001c0001t0022g0239 a0001c0001t0022g0244 others(2): Show a0001c0001t0022g0120 a0001c0001t0022g0239 a0001c0001t0022g0244 a0001c0001t0045g0212 a0001c0001t0046g0135	5	44	0.1136	12	c.-12 others(18): Show c.-12_-1dupGCAGCAGCAGCA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/4	134/2232	1/414	1/137		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7693295	T T	TTATCTAT others(5): Show TTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(76): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01256.hp1 HG01256.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG02004.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03225.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18960.hp1 NA18968.hp1 NA18975.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19009.hp1 NA19012.hp1 NA19030.hp2 NA19058.hp1 NA19058.hp2 NA19076.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0036 a0001c0001t0039 a0001c0001t0043 a0001c0001t0054 a0001c0001t0056 a0001c0001t0059 a0001c0001t0061 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0072 a0001c0001t0076 a0001c0002t0001 a0001c0002t0063 a0001c0004t0039 a0003c0005t0002	a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0061 others(75): Show a0001c0001t0001g0031 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0002g0029 a0001c0001t0002g0070 a0001c0001t0002g0085 a0001c0001t0002g0167 a0001c0001t0003g0107 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0182 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0004g0012 a0001c0001t0004g0075 a0001c0001t0004g0091 a0001c0001t0004g0142 a0001c0001t0005g0035 a0001c0001t0005g0048 a0001c0001t0005g0052 a0001c0001t0005g0077 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0096 a0001c0001t0006g0131 a0001c0001t0007g0041 a0001c0001t0008g0058 a0001c0001t0008g0153 a0001c0001t0008g0154 a0001c0001t0009g0185 a0001c0001t0010g0097 a0001c0001t0011g0045 a0001c0001t0011g0189 a0001c0001t0014g0003 a0001c0001t0014g0009 a0001c0001t0014g0219 a0001c0001t0015g0140 a0001c0001t0017g0133 a0001c0001t0019g0081 a0001c0001t0019g0119 a0001c0001t0020g0216 a0001c0001t0022g0244 a0001c0001t0023g0203 a0001c0001t0023g0249 a0001c0001t0024g0141 a0001c0001t0025g0001 a0001c0001t0025g0095 a0001c0001t0026g0230 a0001c0001t0027g0221 a0001c0001t0027g0234 a0001c0001t0028g0014 a0001c0001t0029g0217 a0001c0001t0030g0243 a0001c0001t0030g0248 a0001c0001t0031g0209 a0001c0001t0031g0246 a0001c0001t0033g0088 a0001c0001t0033g0204 a0001c0001t0036g0163 a0001c0001t0039g0160 a0001c0001t0043g0143 a0001c0001t0043g0144 a0001c0001t0054g0233 a0001c0001t0056g0064 a0001c0001t0059g0157 a0001c0001t0061g0158 a0001c0001t0064g0190 a0001c0001t0065g0214 a0001c0001t0066g0115 a0001c0001t0072g0026 a0001c0001t0076g0218 a0001c0002t0001g0196 a0001c0002t0063g0155 a0001c0004t0039g0159 a0003c0005t0002g0079	79	97	0.8144	12	c.82+ others(29): Show c.82+19873_82+19884dupTCTATCTATCTA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7777574	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18522.hp2 NA18986.hp1 HG01106.hp1 NA18522.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0066 a0001c0001t0006 a0001c0001t0012 a0001c0001t0066	a0001c0001t0006g0093 a0001c0001t0012g0197 a0001c0001t0066g0115 a0001c0001t0006g0093 a0001c0001t0012g0197 a0001c0001t0066g0115	3	72	0.0417	12	c.83- others(29): Show c.83-24079_83-24068dupATATATATATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7778275	T T	TGTGTGTG others(5): Show TGTGTGTGAGAGA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0100 a0001c0001t0010g0100	1	126	0.0079	12	c.83- others(29): Show c.83-23394_83-23393insTGTGTGAGAGAG	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7778275	T T	TGTGTGTG others(5): Show TGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18952.hp2 HG03927.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0002 a0001c0001t0023	a0001c0001t0002g0025 a0001c0001t0023g0245 a0001c0001t0002g0025 a0001c0001t0023g0245	2	127	0.0157	12	c.83- others(29): Show c.83-23394_83-23393insTGTGTGTGAGAG	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7827137	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0145 a0001c0001t0016g0145	1	151	0.0066	12	c.156 others(31): Show c.156+25395_156+25396insGTGTGTGTGTGT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7827141	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02970.hp2 NA18906.hp2 HG02486.hp1 HG02970.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0001t0026 a0001c0002t0063 a0001c0001t0014 a0001c0001t0026 a0001c0002t0063	a0001c0001t0014g0003 a0001c0001t0026g0230 a0001c0002t0063g0155 a0001c0001t0014g0003 a0001c0001t0026g0230 a0001c0002t0063g0155	3	87	0.0345	12	c.156 others(31): Show c.156+25399_156+25400insGTGTGTGTGTGT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7827177	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02818.hp2 HG01069.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0050 a0001c0001t0029 a0001c0001t0050	a0001c0001t0029g0226 a0001c0001t0050g0136 a0001c0001t0029g0226 a0001c0001t0050g0136	2	225	0.0089	12	c.156 others(31): Show c.156+25435_156+25436insGTGTGTGTGTAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
UMODL1_chr21_42066317_42147996	42069229	A A	AACACACA others(5): Show AACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG01099.hp2 others(21): Show HG00140.hp2 HG00609.hp1 HG01099.hp2 HG01175.hp1 HG01243.hp2 HG02523.hp1 HG02602.hp2 HG02683.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG03209.hp2 HG03540.hp1 HG03688.hp2 HG03710.hp1 HG03942.hp2 HG04184.hp1 NA18951.hp1 NA18973.hp1 NA18974.hp2 NA18989.hp2 NA18994.hp1 NA19060.hp2 NA20129.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0009 a0010 a0011 a0015 a0020 a0049 a0080 a0084 a0088 a0097 a0099 a0106 a0111	a0001c0008 a0001c0055 a0002c0005 others(17): Show a0001c0008 a0001c0055 a0002c0005 a0003c0004 a0004c0118 a0004c0188 a0009c0018 a0010c0063 a0011c0010 a0015c0016 a0020c0030 a0020c0113 a0049c0169 a0080c0066 a0084c0096 a0088c0085 a0097c0127 a0099c0140 a0106c0178 a0111c0089	a0001c0008t0001 a0001c0055t0001 a0002c0005t0001 others(18): Show a0001c0008t0001 a0001c0055t0001 a0002c0005t0001 a0003c0004t0001 a0004c0118t0002 a0004c0188t0002 a0009c0018t0001 a0010c0063t0001 a0011c0010t0004 a0011c0010t0005 a0015c0016t0002 a0020c0030t0005 a0020c0113t0001 a0049c0169t0002 a0080c0066t0001 a0084c0096t0001 a0088c0085t0002 a0097c0127t0001 a0099c0140t0001 a0106c0178t0002 a0111c0089t0015	a0001c0008t0001g0211 a0001c0055t0001g0106 a0002c0005t0001g0214 others(21): Show a0001c0008t0001g0211 a0001c0055t0001g0106 a0002c0005t0001g0214 a0003c0004t0001g0202 a0004c0118t0002g0121 a0004c0188t0002g0087 a0009c0018t0001g0125 a0009c0018t0001g0201 a0010c0063t0001g0025 a0011c0010t0004g0138 a0011c0010t0005g0140 a0015c0016t0002g0132 a0015c0016t0002g0142 a0020c0030t0005g0080 a0020c0030t0005g0081 a0020c0113t0001g0017 a0049c0169t0002g0091 a0080c0066t0001g0197 a0084c0096t0001g0136 a0088c0085t0002g0218 a0097c0127t0001g0123 a0099c0140t0001g0024 a0106c0178t0002g0181 a0111c0089t0015g0120	24	114	0.2105	12	c.-20 others(23): Show c.-2088_-2087insACACACACACAC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding					2087		chr21	TogoVar
UMODL1_chr21_42066317_42147996	42095089	G G	GGTTTTTT others(5): Show GGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02056.hp1 HG02155.hp1 others(10): Show HG00597.hp1 HG02056.hp1 HG02155.hp1 HG02257.hp2 HG02717.hp2 HG02723.hp2 HG03491.hp2 HG03704.hp2 HG03710.hp2 NA18950.hp2 NA18998.hp2 NA19060.hp2 NA19065.hp1	a0003 a0009 a0020 others(7): Show a0003 a0009 a0020 a0023 a0028 a0034 a0075 a0078 a0086 a0105	a0003c0004 a0009c0018 a0020c0103 others(7): Show a0003c0004 a0009c0018 a0020c0103 a0023c0101 a0028c0050 a0034c0052 a0075c0166 a0078c0098 a0086c0158 a0105c0167	a0003c0004t0001 a0003c0004t0028 a0009c0018t0001 others(9): Show a0003c0004t0001 a0003c0004t0028 a0009c0018t0001 a0020c0103t0001 a0023c0101t0026 a0028c0050t0001 a0028c0050t0003 a0034c0052t0002 a0075c0166t0002 a0078c0098t0002 a0086c0158t0001 a0105c0167t0002	a0003c0004t0001g0202 a0003c0004t0001g0313 a0003c0004t0028g0038 others(10): Show a0003c0004t0001g0202 a0003c0004t0001g0313 a0003c0004t0028g0038 a0009c0018t0001g0282 a0020c0103t0001g0137 a0023c0101t0026g0331 a0028c0050t0001g0045 a0028c0050t0003g0147 a0034c0052t0002g0262 a0075c0166t0002g0290 a0078c0098t0002g0243 a0086c0158t0001g0370 a0105c0167t0002g0190	13	75	0.1733	12	c.932 others(29): Show c.932-3837_932-3836insGTTTTTTTTTTT	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	6/22						chr21	TogoVar
UMODL1_chr21_42066317_42147996	42095089	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp1 HG01099.hp1 others(13): Show HG00673.hp1 HG00735.hp1 HG01099.hp1 HG01243.hp2 HG01346.hp2 HG01975.hp1 HG01975.hp2 HG02523.hp1 HG02523.hp2 HG02735.hp2 HG03688.hp2 HG03927.hp2 NA18949.hp2 NA18998.hp1 NA19012.hp1 NA19082.hp1	a0001 a0004 a0007 others(8): Show a0001 a0004 a0007 a0011 a0018 a0039 a0048 a0059 a0097 a0104 a0118	a0001c0001 a0001c0008 a0001c0173 others(11): Show a0001c0001 a0001c0008 a0001c0173 a0004c0185 a0004c0188 a0007c0006 a0011c0010 a0018c0021 a0039c0142 a0048c0174 a0059c0071 a0097c0127 a0104c0072 a0118c0083	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0008t0001 a0001c0173t0001 a0004c0185t0021 a0004c0188t0002 a0007c0006t0003 a0011c0010t0005 a0018c0021t0003 a0039c0142t0011 a0048c0174t0002 a0059c0071t0001 a0097c0127t0001 a0104c0072t0014 a0118c0083t0002	a0001c0001t0001g0102 a0001c0001t0004g0334 a0001c0001t0007g0163 others(13): Show a0001c0001t0001g0102 a0001c0001t0004g0334 a0001c0001t0007g0163 a0001c0008t0001g0279 a0001c0173t0001g0176 a0004c0185t0021g0093 a0004c0188t0002g0087 a0007c0006t0003g0033 a0011c0010t0005g0140 a0018c0021t0003g0210 a0039c0142t0011g0116 a0048c0174t0002g0332 a0059c0071t0001g0350 a0097c0127t0001g0123 a0104c0072t0014g0255 a0118c0083t0002g0230	16	78	0.2051	12	c.932 others(29): Show c.932-3825_932-3814dupTTTTTTTTTTTT	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	6/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42130221	C C	CTTGTGTG others(5): Show CTTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18998.hp1 NA19079.hp1 NA18953.hp2 NA18998.hp1 NA19079.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0003 a0007c0006t0029 a0007c0006t0001 a0007c0006t0003 a0007c0006t0029	a0007c0006t0001g0238 a0007c0006t0003g0033 a0007c0006t0029g0065 a0007c0006t0001g0238 a0007c0006t0003g0033 a0007c0006t0029g0065	3	188	0.0160	12	c.377 others(29): Show c.3775+424_3775+425insTTGTGTGTGTGT	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	21/22						chr21	TogoVar
UMODL1_chr21_42066317_42147996	42130245	T T	TGTGTGTG others(5): Show TGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0051 a0051	a0051c0059 a0051c0059	a0051c0059t0034 a0051c0059t0034	a0051c0059t0034g0357 a0051c0059t0034g0357	1	335	0.0030	12	c.377 others(29): Show c.3775+449_3775+450insTGTGTGTGCGCG	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	21/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
UMOD_chr16_20328051_20357715	20343129	C C	CAATAAAT others(5): Show CAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01099.hp2 HG03486.hp1 others(1): Show HG00438.hp2 HG01099.hp2 HG03486.hp1 NA19090.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0009 a0001c0003 a0004c0009	a0001c0003t0002 a0004c0009t0001 a0001c0003t0002 a0004c0009t0001	a0001c0003t0002g0055 a0001c0003t0002g0072 a0004c0009t0001g0019 a0001c0003t0002g0055 a0001c0003t0002g0072 a0004c0009t0001g0019	4	347	0.0115	12	c.133 others(29): Show c.1331+883_1331+894dupTATTTATTTATT	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	6/10						chr16	TogoVar
UMOD_chr16_20328051_20357715	20345400	T T	TTTTCTTT others(5): Show TTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01192.hp1 others(2): Show HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01928.hp2 HG02148.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0004 a0001c0004t0001g0004	5	337	0.0148	12	c.118 others(29): Show c.1182+714_1182+725dupGAAAGAAAGAAA	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10						chr16	TogoVar
UMOD_chr16_20328051_20357715	20345476	T T	TTCTTTCC others(5): Show TTCTTTCCCTCTC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0062 a0006c0010t0001g0062	1	397	0.0025	12	c.118 others(29): Show c.1182+649_1182+650insGAGAGGGAAAGA	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10						chr16	TogoVar
UMOD_chr16_20328051_20357715	20345480	T T	TTCCCTCC others(5): Show TTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01256.hp2 HG01261.hp1 others(19): Show HG00642.hp2 HG01256.hp2 HG01261.hp1 HG01496.hp2 HG02055.hp1 HG02451.hp1 HG02735.hp1 HG02886.hp1 HG03139.hp1 NA18906.hp2 NA18951.hp1 NA18956.hp1 NA18963.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp2 NA19058.hp2 NA19081.hp1 NA20300.hp2 NA21309.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0013 a0001c0001 a0008c0013	a0001c0001t0001 a0001c0001t0004 a0008c0013t0001 a0001c0001t0001 a0001c0001t0004 a0008c0013t0001	a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0093 others(19): Show a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0206 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0004g0096 a0008c0013t0001g0098	22	244	0.0902	12	c.118 others(29): Show c.1182+634_1182+645dupGGGAGGGAGGGA	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10						chr16	TogoVar
UMOD_chr16_20328051_20357715	20345502	C C	CCCTCCCT others(5): Show CCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03486.hp1 HG01099.hp2 HG03486.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0019 a0004c0009t0001g0019	2	317	0.0063	12	c.118 others(29): Show c.1182+623_1182+624insAAGGGAGGGAGG	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10						chr16	TogoVar
UMPS_chr3_124725452_124754273	124732967	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(91): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00642.hp2 HG01069.hp1 HG01071.hp1 HG01192.hp2 HG01243.hp2 HG01261.hp2 HG01358.hp1 HG01943.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02523.hp2 HG02630.hp1 HG02683.hp1 HG02723.hp2 HG02738.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03540.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp2 NA18955.hp2 NA18959.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18993.hp2 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19085.hp1 NA20129.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(18): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0057 a0001c0001t0063 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0070 a0002c0006t0095	a0001c0001t0003g0002 a0001c0001t0003g0018 a0001c0001t0003g0019 others(46): Show a0001c0001t0003g0002 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0025 a0001c0001t0003g0060 a0001c0001t0003g0069 a0001c0001t0004g0002 a0001c0001t0004g0012 a0001c0001t0004g0016 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0025 a0001c0001t0004g0057 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0005g0002 a0001c0001t0005g0012 a0001c0001t0005g0016 a0001c0001t0005g0018 a0001c0001t0005g0024 a0001c0001t0005g0058 a0001c0001t0005g0071 a0001c0001t0006g0002 a0001c0001t0006g0024 a0001c0001t0006g0070 a0001c0001t0006g0072 a0001c0001t0007g0002 a0001c0001t0007g0012 a0001c0001t0007g0016 a0001c0001t0007g0018 a0001c0001t0007g0024 a0001c0001t0016g0059 a0001c0001t0017g0002 a0001c0001t0017g0011 a0001c0001t0017g0025 a0001c0001t0022g0002 a0001c0001t0027g0011 a0001c0001t0028g0011 a0001c0001t0029g0002 a0001c0001t0037g0002 a0001c0001t0038g0002 a0001c0001t0039g0011 a0001c0001t0057g0061 a0001c0001t0063g0002 a0001c0001t0065g0018 a0001c0001t0066g0011 a0001c0001t0067g0002 a0001c0001t0070g0002 a0002c0006t0095g0108	94	159	0.5912	12	c.157 others(29): Show c.157-2107_157-2096dupGTGTGTGTGTGT	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
UMPS_chr3_124725452_124754273	124746755	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01934.hp1 HG02109.hp1 others(19): Show HG01109.hp2 HG01934.hp1 HG02109.hp1 HG02280.hp1 HG02293.hp1 HG02523.hp2 HG02602.hp2 HG02818.hp1 HG03139.hp2 HG03471.hp2 NA18612.hp2 NA18965.hp1 NA18966.hp2 NA18978.hp1 NA18983.hp1 NA18988.hp2 NA18989.hp2 NA19009.hp1 NA19057.hp2 NA19067.hp1 NA19068.hp1 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0001c0001t0034 a0001c0001t0050 others(2): Show a0001c0001t0007 a0001c0001t0034 a0001c0001t0050 a0001c0001t0061 a0002c0002t0092	a0001c0001t0007g0002 a0001c0001t0007g0004 a0001c0001t0007g0007 others(12): Show a0001c0001t0007g0002 a0001c0001t0007g0004 a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0012 a0001c0001t0007g0016 a0001c0001t0007g0017 a0001c0001t0007g0018 a0001c0001t0007g0024 a0001c0001t0007g0047 a0001c0001t0034g0005 a0001c0001t0034g0080 a0001c0001t0050g0079 a0001c0001t0061g0008 a0002c0002t0092g0034	22	29	0.7586	12	c.27 others(23): Show c.2702_*2713dupTGTGTGTGTGTG	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding	6/6				2714	INFO_REALIGN_3_PRIME	chr3	TogoVar
UNC119B_chr12_120705458_120728640	120705926	G G	GAGGAAAA others(5): Show GAGGAAAACAGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp2 others(51): Show HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00673.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp2 HG02165.hp2 HG02523.hp1 HG02976.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp2 HG04199.hp1 NA18747.hp1 NA18940.hp1 NA18945.hp1 NA18952.hp2 NA18954.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18968.hp1 NA18973.hp2 NA18977.hp2 NA18980.hp1 NA18986.hp1 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18997.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19030.hp1 NA19063.hp1 NA19067.hp2 NA19072.hp1 NA19076.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0032 a0001c0001t0003 a0001c0001t0019 a0001c0001t0032	a0001c0001t0003g0003 a0001c0001t0003g0018 a0001c0001t0003g0050 others(3): Show a0001c0001t0003g0003 a0001c0001t0003g0018 a0001c0001t0003g0050 a0001c0001t0019g0030 a0001c0001t0019g0031 a0001c0001t0032g0003	54	396	0.1364	12	c.-45 others(23): Show c.-4549_-4548insAGGAAAACAGCC	UNC119B	ENSG00000175970.11	transcript	ENST00000344651.5	protein_coding					4531		chr12	TogoVar
UNC119B_chr12_120705458_120728640	120710356	G G	GCCCGCCC others(5): Show GCCCGCCCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0057 a0001c0001t0009g0057	1	396	0.0025	12	c.-11 others(21): Show c.-119_-118insCCCGCCCCCGCC	UNC119B	ENSG00000175970.11	transcript	ENST00000344651.5	protein_coding					101		chr12	TogoVar
UNC119_chr17_28541708_28557624	28542122	C C	CATATATA others(5): Show CATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG03130.hp1 NA19240.hp1 HG02698.hp1 HG03130.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0004g0012 a0001c0001t0001g0001 a0001c0001t0004g0012	3	130	0.0231	12	c.51 others(23): Show c.5163_*5174dupATATATATATAT	UNC119	ENSG00000109103.12	transcript	ENST00000335765.9	protein_coding					4585		chr17	TogoVar
UNC119_chr17_28541708_28557624	28553639	G G	GACACACA others(5): Show GACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	12	0.0833	12	c.-10 others(23): Show c.-1094_-1083dupGTGTGTGTGTGT	UNC119	ENSG00000109103.12	transcript	ENST00000335765.9	protein_coding					1016		chr17	TogoVar
UNC13A_chr19_17596336_17693354	17631184	T T	TTCCTTCC others(5): Show TTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0109 a0001c0003t0003g0109	1	230	0.0043	12	c.342 others(29): Show c.3429-446_3429-435dupGGGAGGGAAGGA	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	28/43						chr19	TogoVar
UNC13A_chr19_17596336_17693354	17642032	A A	ACATCCAT others(5): Show ACATCCATCCATC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp2 HG02809.hp1 others(4): Show HG02647.hp1 HG02717.hp2 HG02809.hp1 HG03041.hp1 HG03540.hp1 NA19043.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0027 a0001c0055 others(4): Show a0001c0002 a0001c0027 a0001c0055 a0001c0056 a0001c0057 a0002c0034 a0002c0040	a0001c0002t0018 a0001c0027t0002 a0001c0055t0001 others(4): Show a0001c0002t0018 a0001c0027t0002 a0001c0055t0001 a0001c0056t0002 a0001c0057t0024 a0002c0034t0002 a0002c0040t0014	a0001c0002t0018g0103 a0001c0027t0002g0044 a0001c0055t0001g0102 others(4): Show a0001c0002t0018g0103 a0001c0027t0002g0044 a0001c0055t0001g0102 a0001c0056t0002g0155 a0001c0057t0024g0233 a0002c0034t0002g0099 a0002c0040t0014g0316	7	193	0.0363	12	c.247 others(29): Show c.2473-488_2473-477dupGATGGATGGATG	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	20/43						chr19	TogoVar
UNC13A_chr19_17596336_17693354	17646269	G G	GTGTTTGT others(5): Show GTGTTTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03579.hp1 HG02970.hp1 HG03579.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0025 a0001c0007t0001 a0001c0007t0025	a0001c0007t0001g0042 a0001c0007t0025g0320 a0001c0007t0001g0042 a0001c0007t0025g0320	2	208	0.0096	12	c.204 others(29): Show c.2045-159_2045-158insAACACACAAACA	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	17/43						chr19	TogoVar
UNC13A_chr19_17596336_17693354	17646269	G G	GTGTTTGT others(5): Show GTGTTTGTTTGTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0157	1	207	0.0048	12	c.204 others(29): Show c.2045-170_2045-159dupAACAAACAAACA	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	17/43						chr19	TogoVar
UNC13A_chr19_17596336_17693354	17666197	C C	CTCTCTCT others(5): Show CTCTCTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0033 a0001c0050t0033	a0001c0050t0033g0085 a0001c0050t0033g0085	1	107	0.0093	12	c.523 others(27): Show c.523+452_523+453insAAGAAAGAGAGA	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	7/43						chr19	TogoVar

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