Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
INSIG2_chr2_118083471_118115997	118093433	AGATGATG others(63): Show AGATGATGATGATGATGATGATGAAGGAGAGTTCTGTAGCTACTGAACCT TGCCAAAAGCAACCAGATGAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00438.hp2 others(72): Show HG00280.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG01069.hp2 HG01167.hp1 HG01261.hp1 HG01884.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02080.hp1 HG02129.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02698.hp2 HG02738.hp1 HG02895.hp1 HG02965.hp2 HG03017.hp2 HG03209.hp1 HG03239.hp1 HG03491.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp1 NA18522.hp2 NA18747.hp2 NA18941.hp2 NA18944.hp2 NA18945.hp1 NA18954.hp2 NA18962.hp1 NA18970.hp1 NA18975.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA19002.hp1 NA19004.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19056.hp1 NA19063.hp1 NA19066.hp1 NA19074.hp2 NA19081.hp1 NA19086.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 others(9): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028	a0001c0001t0003g0002 a0001c0001t0003g0016 a0001c0001t0003g0017 others(46): Show a0001c0001t0003g0002 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0038 a0001c0001t0003g0103 a0001c0001t0003g0107 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0126 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0145 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0010g0018 a0001c0001t0010g0140 a0001c0001t0010g0141 a0001c0001t0010g0142 a0001c0001t0010g0144 a0001c0001t0014g0016 a0001c0001t0014g0109 a0001c0001t0014g0127 a0001c0001t0014g0133 a0001c0001t0019g0039 a0001c0001t0019g0125 a0001c0001t0021g0119 a0001c0001t0021g0146 a0001c0001t0023g0018 a0001c0001t0024g0108 a0001c0001t0025g0123 a0001c0001t0026g0131 a0001c0001t0027g0269 a0001c0001t0028g0024	75	440	0.1705	-70	c.-13 others(89): Show c.-138-2962_-138-2893delAGGAGAGTTCTGTAGCTACTGAACCT TGCCAAAAGCAACCAGATGATGATGATGATGATGATGATGATGA	INSIG2	ENSG00000125629.16	transcript	ENST00000245787.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
INTS1_chr7_1465277_1509389	1484943	ACCCCGTC others(63): Show ACCCCGTCCCCTCCCCAGGGCCACACTGCCGGCTGGCCCCGTCCCCTCCC CAGGGCCACACTGCCGGCTGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02738.hp1 HG02897.hp1 others(5): Show HG01884.hp1 HG02738.hp1 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03453.hp2 HG03492.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0031 others(1): Show a0001c0005 a0001c0008 a0001c0031 a0001c0036	a0001c0005t0001 a0001c0008t0003 a0001c0031t0001 others(1): Show a0001c0005t0001 a0001c0008t0003 a0001c0031t0001 a0001c0036t0010	a0001c0005t0001g0116 a0001c0005t0001g0214 a0001c0005t0001g0215 others(4): Show a0001c0005t0001g0116 a0001c0005t0001g0214 a0001c0005t0001g0215 a0001c0005t0001g0216 a0001c0008t0003g0018 a0001c0031t0001g0123 a0001c0036t0010g0226	8	316	0.0253	-70	c.326 others(86): Show c.3261+85_3261+154delCCAGCCGGCAGTGTGGCCCTGGGGAGGGG ACGGGGCCAGCCGGCAGTGTGGCCCTGGGGAGGGGACGGGG	INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding	24/47			chr7	TogoVar
INTS5_chr11_62641848_62658302	62646786	GAACGTCC others(63): Show GAACGTCCAGAGCCAGGCGCTGTCAGACTTTGCACGCTCTCAGCATGACA GAAGCACTGGACTGGTTTTCT	G G	splice_region_variant splice_region_variant	LOW	HG03130.hp1 HG03130.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0002 a0005c0011t0002	a0005c0011t0002g0020 a0005c0011t0002g0020	1	368	0.0027	-70	c.16 others(79): Show c.164_*233delAGAAAACCAGTCCAGTGCTTCTGTCATGCTGAGAGC GTGCAAAGTCTGACAGCGCCTGGCTCTGGACGTT	INTS5	ENSG00000185085.2	transcript	ENST00000330574.2	protein_coding	2/2			chr11	TogoVar
IPO11_chr5_62407763_62633582	62598422	TTCTTTCT others(63): Show TTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG02922.hp1 HG01515.hp1 HG01517.hp1 HG02922.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0003c0009t0001 a0001c0001t0001 a0003c0009t0001	a0001c0001t0001g0123 a0001c0001t0001g0125 a0003c0009t0001g0086 a0001c0001t0001g0123 a0001c0001t0001g0125 a0003c0009t0001g0086	3	330	0.0091	-70	c.267 others(89): Show c.2679-3330_2679-3261delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQCG_chr3_197884077_197964991	197904023	CATATATA others(63): Show CATATATATATACATACATATATATACATACATATATATATATACATACA TATATATATACATACATATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp1 HG01243.hp1 others(8): Show HG00323.hp1 HG01074.hp1 HG01243.hp1 HG02630.hp2 HG02922.hp1 HG03490.hp2 HG03492.hp2 HG03704.hp2 HG04115.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0057 a0001c0001t0001g0090 a0001c0001t0002g0012 others(8): Show a0001c0001t0001g0057 a0001c0001t0001g0090 a0001c0001t0002g0012 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0111 a0002c0002t0001g0112	11	280	0.0393	-70	c.963 others(87): Show c.963+8582_963+8651delATATATGTATGTATATATATATGTATGT ATATATATATATGTATGTATATATATGTATGTATATATATAT	IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding	9/11			chr3	TogoVar
ITGA11_chr15_68291532_68437163	68397218	TTATATAT others(63): Show TTATATATTATATATTATGTATTATATTATATTTTATAAAATATTATAAA AATATTAAATTAAAAATTTTA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03516.hp2 NA19030.hp1 HG03041.hp1 HG03516.hp2 NA19030.hp1	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0005 a0004c0029 a0010c0021 a0001c0005 a0004c0029 a0010c0021	a0001c0005t0090 a0004c0029t0119 a0010c0021t0097 a0001c0005t0090 a0004c0029t0119 a0010c0021t0097	a0001c0005t0090g0041 a0004c0029t0119g0128 a0010c0021t0097g0028 a0001c0005t0090g0041 a0004c0029t0119g0128 a0010c0021t0097g0028	3	242	0.0124	-70	c.164 others(87): Show c.164+5630_164+5699delTAAAATTTTTAATTTAATATTTTTATAA TATTTTATAAAATATAATATAATACATAATATATAATATATA	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA11_chr15_68291532_68437163	68397227	ATATATTA others(63): Show ATATATTATGTATTATATTATATTTTATAAAATATTATAAAAATATTAAA TTAAAAATTTTAAAATAATAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03453.hp2 HG03471.hp2 HG02970.hp2 HG03453.hp2 HG03471.hp2	a0001 a0004 a0001 a0004	a0001c0005 a0001c0081 a0004c0076 a0001c0005 a0001c0081 a0004c0076	a0001c0005t0083 a0001c0081t0012 a0004c0076t0015 a0001c0005t0083 a0001c0081t0012 a0004c0076t0015	a0001c0005t0083g0156 a0001c0081t0012g0238 a0004c0076t0015g0115 a0001c0005t0083g0156 a0001c0081t0012g0238 a0004c0076t0015g0115	3	242	0.0124	-70	c.164 others(87): Show c.164+5621_164+5690delATATTATTTTAAAATTTTTAATTTAATA TTTTTATAATATTTTATAAAATATAATATAATACATAATATA	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA11_chr15_68291532_68437163	68397245	TATATTTT others(63): Show TATATTTTATAAAATATTATAAAAATATTAAATTAAAAATTTTAAAATAA TATTATATTATTTATTATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00544.hp2 others(75): Show HG00280.hp1 HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02055.hp1 HG02056.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02965.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18939.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18960.hp2 NA18964.hp2 NA18977.hp1 NA18978.hp1 NA18998.hp2 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19056.hp1 NA19074.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009 a0010 a0011 a0015 a0018 a0021 a0022	a0001c0001 a0001c0002 a0001c0003 others(24): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0063 a0002c0008 a0002c0011 a0002c0012 a0002c0043 a0002c0058 a0003c0004 a0003c0009 a0003c0014 a0003c0031 a0004c0010 a0004c0053 a0006c0033 a0007c0007 a0007c0051 a0009c0019 a0009c0050 a0010c0021 a0011c0026 a0015c0048 a0018c0070 a0021c0059 a0022c0060	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(64): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0022 a0001c0001t0027 a0001c0001t0065 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0018 a0001c0002t0033 a0001c0002t0052 a0001c0002t0071 a0001c0003t0004 a0001c0003t0011 a0001c0003t0013 a0001c0003t0027 a0001c0003t0056 a0001c0003t0075 a0001c0003t0082 a0001c0003t0084 a0001c0006t0013 a0001c0006t0106 a0001c0063t0029 a0002c0008t0001 a0002c0008t0010 a0002c0011t0001 a0002c0011t0010 a0002c0011t0113 a0002c0012t0004 a0002c0012t0036 a0002c0043t0086 a0002c0058t0068 a0003c0004t0007 a0003c0004t0014 a0003c0004t0019 a0003c0004t0020 a0003c0004t0022 a0003c0004t0064 a0003c0004t0088 a0003c0009t0067 a0003c0014t0011 a0003c0031t0017 a0004c0010t0015 a0004c0053t0025 a0006c0033t0023 a0006c0033t0024 a0007c0007t0026 a0007c0007t0089 a0007c0051t0038 a0009c0019t0001 a0009c0019t0036 a0009c0019t0118 a0009c0050t0001 a0010c0021t0004 a0011c0026t0003 a0011c0026t0004 a0015c0048t0003 a0018c0070t0019 a0021c0059t0073 a0022c0060t0006	a0001c0001t0002g0117 a0001c0001t0003g0103 a0001c0001t0004g0204 others(75): Show a0001c0001t0002g0117 a0001c0001t0003g0103 a0001c0001t0004g0204 a0001c0001t0005g0056 a0001c0001t0005g0215 a0001c0001t0006g0099 a0001c0001t0006g0196 a0001c0001t0009g0168 a0001c0001t0012g0214 a0001c0001t0022g0193 a0001c0001t0027g0102 a0001c0001t0065g0198 a0001c0002t0002g0043 a0001c0002t0002g0182 a0001c0002t0002g0188 a0001c0002t0003g0080 a0001c0002t0003g0189 a0001c0002t0004g0026 a0001c0002t0006g0206 a0001c0002t0006g0207 a0001c0002t0009g0155 a0001c0002t0018g0070 a0001c0002t0033g0208 a0001c0002t0033g0219 a0001c0002t0052g0199 a0001c0002t0071g0016 a0001c0003t0004g0085 a0001c0003t0011g0075 a0001c0003t0013g0186 a0001c0003t0027g0005 a0001c0003t0056g0157 a0001c0003t0075g0164 a0001c0003t0082g0048 a0001c0003t0084g0220 a0001c0006t0013g0069 a0001c0006t0106g0121 a0001c0063t0029g0002 a0002c0008t0001g0072 a0002c0008t0001g0143 a0002c0008t0010g0177 a0002c0008t0010g0178 a0002c0011t0001g0124 a0002c0011t0010g0083 a0002c0011t0113g0145 a0002c0012t0004g0201 a0002c0012t0036g0213 a0002c0043t0086g0141 a0002c0058t0068g0106 a0003c0004t0007g0098 a0003c0004t0014g0061 a0003c0004t0019g0217 a0003c0004t0020g0063 a0003c0004t0022g0089 a0003c0004t0064g0203 a0003c0004t0088g0165 a0003c0009t0067g0079 a0003c0014t0011g0179 a0003c0031t0017g0081 a0004c0010t0015g0129 a0004c0010t0015g0130 a0004c0010t0015g0131 a0004c0053t0025g0133 a0006c0033t0023g0010 a0006c0033t0024g0011 a0007c0007t0026g0086 a0007c0007t0089g0147 a0007c0051t0038g0159 a0009c0019t0001g0047 a0009c0019t0036g0146 a0009c0019t0118g0163 a0009c0050t0001g0216 a0010c0021t0004g0187 a0011c0026t0003g0033 a0011c0026t0004g0065 a0015c0048t0003g0068 a0018c0070t0019g0097 a0021c0059t0073g0071 a0022c0060t0006g0212	78	242	0.3223	-70	c.164 others(87): Show c.164+5603_164+5672delTATATAATAAATAATATAATATTATTTT AAAATTTTTAATTTAATATTTTTATAATATTTTATAAAATAT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGB2_chr21_44880953_44925899	44912804	AGCTTCAG others(63): Show AGCTTCAGGACTCCCCCAGGGTGCAGGGTCCAGCCGGCTTCAGGACTCCC CCAGGGTGCAGGGTCCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01884.hp1 others(10): Show HG01257.hp1 HG01258.hp2 HG01884.hp1 HG02258.hp1 HG02451.hp1 HG02615.hp2 HG02818.hp1 HG02818.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03195.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0033 a0001c0001 a0001c0018 a0001c0033	a0001c0001t0001 a0001c0001t0004 a0001c0018t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0018t0005 a0001c0033t0004	a0001c0001t0001g0200 a0001c0001t0001g0307 a0001c0001t0001g0339 others(9): Show a0001c0001t0001g0200 a0001c0001t0001g0307 a0001c0001t0001g0339 a0001c0001t0001g0366 a0001c0001t0004g0013 a0001c0001t0004g0231 a0001c0001t0004g0336 a0001c0001t0004g0361 a0001c0001t0004g0365 a0001c0001t0004g0389 a0001c0018t0005g0222 a0001c0033t0004g0206	13	444	0.0293	-70	c.-3- others(85): Show c.-3-2089_-3-2020delCGGCTGGACCCTGCACCCTGGGGGAGTCCT GAAGCCGGCTGGACCCTGCACCCTGGGGGAGTCCTGAAGC	ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	1/15			chr21	TogoVar
ITIH2_chr10_7698316_7754520	7719923	AAAGTGTG others(63): Show AAAGTGTGGGAGGGTGGGAGTGGGGAGACTTGGGAGAAGTGTGGGAGGGT GGGAGTGGGGAGACTTGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02897.hp1 HG02280.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0289 a0001c0001t0001g0258 a0001c0001t0001g0289	2	380	0.0053	-70	c.631 others(85): Show c.631-768_631-699delAGACTTGGGAGAAGTGTGGGAGGGTGGGAG TGGGGAGACTTGGGAGAAGTGTGGGAGGGTGGGAGTGGGG	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITSN2_chr2_24197864_24365536	24251435	GTGTGTAT others(63): Show GTGTGTATATATATGTGTATATATGTGTATATATATGTGTATATATATGT GTATATATATGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01433.hp2 HG02056.hp1 others(3): Show HG01099.hp2 HG01433.hp2 HG02056.hp1 HG02135.hp2 HG02486.hp1 NA18945.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0016 a0003c0002 a0007c0009 a0002c0016 a0003c0002 a0007c0009	a0002c0016t0001 a0003c0002t0001 a0007c0009t0001 a0002c0016t0001 a0003c0002t0001 a0007c0009t0001	a0002c0016t0001g0201 a0003c0002t0001g0160 a0003c0002t0001g0162 others(3): Show a0002c0016t0001g0201 a0003c0002t0001g0160 a0003c0002t0001g0162 a0003c0002t0001g0165 a0003c0002t0001g0182 a0007c0009t0001g0163	6	224	0.0268	-70	c.312 others(87): Show c.3120+840_3120+909delTATATATACACATATATATACACATATA TATACACATATATATACACATATATACACATATATATACACA	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24251471	GTGTATAT others(63): Show GTGTATATATATGTGTATATATATGTGTATATATATGTGTATATATATGT GTATATATATGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0127 a0002c0003t0001g0127	1	224	0.0045	-70	c.312 others(87): Show c.3120+804_3120+873delTATATATACACATATATATACACATATA TATACACATATATATACACATATATATACACATATATATACA	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
JAKMIP3_chr10_132060946_132189858	132115189	AGGTCACC others(63): Show AGGTCACCGCGATCGCGGCTAGGGGTCACCCTGCCGGGTCACCGCGATCG CGGCTAGGGGTCACCCTGGTG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp2 HG01069.hp2 others(25): Show HG00423.hp1 HG00642.hp2 HG01069.hp2 HG01243.hp1 HG01256.hp2 HG01884.hp1 HG02135.hp2 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03491.hp1 HG06807.hp2 NA18999.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0006 a0001c0019 others(13): Show a0001c0001 a0001c0006 a0001c0019 a0001c0032 a0001c0048 a0002c0016 a0002c0023 a0002c0025 a0003c0003 a0003c0018 a0004c0014 a0004c0024 a0004c0030 a0004c0035 a0004c0043 a0006c0044	a0001c0001t0002 a0001c0001t0003 a0001c0006t0003 others(21): Show a0001c0001t0002 a0001c0001t0003 a0001c0006t0003 a0001c0006t0025 a0001c0006t0035 a0001c0019t0003 a0001c0019t0015 a0001c0032t0037 a0001c0048t0013 a0002c0016t0006 a0002c0016t0014 a0002c0023t0001 a0002c0025t0008 a0003c0003t0001 a0003c0018t0003 a0004c0014t0001 a0004c0014t0013 a0004c0014t0031 a0004c0024t0002 a0004c0024t0006 a0004c0030t0030 a0004c0035t0005 a0004c0043t0005 a0006c0044t0002	a0001c0001t0002g0114 a0001c0001t0003g0102 a0001c0006t0003g0082 others(25): Show a0001c0001t0002g0114 a0001c0001t0003g0102 a0001c0006t0003g0082 a0001c0006t0003g0083 a0001c0006t0003g0149 a0001c0006t0025g0153 a0001c0006t0035g0057 a0001c0019t0003g0081 a0001c0019t0015g0085 a0001c0032t0037g0124 a0001c0048t0013g0098 a0002c0016t0006g0052 a0002c0016t0014g0143 a0002c0016t0014g0144 a0002c0023t0001g0058 a0002c0025t0008g0033 a0003c0003t0001g0131 a0003c0018t0003g0015 a0004c0014t0001g0041 a0004c0014t0001g0074 a0004c0014t0013g0147 a0004c0014t0031g0150 a0004c0024t0002g0151 a0004c0024t0006g0148 a0004c0030t0030g0084 a0004c0035t0005g0020 a0004c0043t0005g0125 a0006c0044t0002g0031	28	158	0.1772	-70	c.136 others(87): Show c.136-1855_136-1786delCCGGGTCACCGCGATCGCGGCTAGGGGT CACCCTGGTGGGTCACCGCGATCGCGGCTAGGGGTCACCCTG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNA7_chr19_49062397_49077699	49066548	CTGGGTCT others(63): Show CTGGGTCTCTGTCCCTCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTCTGG GTCTCTGTCCCCTTCTGTCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG00733.hp2 others(49): Show HG00099.hp1 HG00609.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01099.hp1 HG01168.hp1 HG01169.hp2 HG01515.hp2 HG01993.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02523.hp1 HG02647.hp1 HG03017.hp1 HG03491.hp2 HG03654.hp1 HG03688.hp1 HG04115.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18956.hp1 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18972.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18989.hp1 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19005.hp1 NA19010.hp1 NA19067.hp2 NA19085.hp1 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0015 a0002c0002 a0007c0012 a0001c0015 a0002c0002 a0007c0012	a0001c0015t0029 a0002c0002t0003 a0002c0002t0010 others(4): Show a0001c0015t0029 a0002c0002t0003 a0002c0002t0010 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0007c0012t0033	a0001c0015t0029g0052 a0002c0002t0003g0002 a0002c0002t0010g0008 others(4): Show a0001c0015t0029g0052 a0002c0002t0003g0002 a0002c0002t0010g0008 a0002c0002t0022g0042 a0002c0002t0023g0043 a0002c0002t0024g0044 a0007c0012t0033g0036	52	396	0.1313	-70	c.34 others(81): Show c.3445_*3514delCAGACAGAAGGGGACAGAGACCCAGAGAGAGAGG GGGACAGAGACCCAGAGAGAGAGGGACAGAGACCCA	KCNA7	ENSG00000104848.2	transcript	ENST00000221444.2	protein_coding		848		chr19	TogoVar
KCNH7_chr2_162366407_162843767	162752903	AAAAAGAA others(63): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02965.hp2 others(5): Show HG02055.hp1 HG02145.hp1 HG02965.hp2 HG03041.hp2 NA18959.hp1 NA18991.hp2 NA19004.hp2 NA19062.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0003t0001g0054 a0001c0003t0001g0064 a0002c0002t0001g0034	8	100	0.0800	-70	c.307 others(89): Show c.307+83564_307+83633delCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15			chr2	TogoVar
KCNK10_chr14_88175108_88328269	88280950	CTGCATCT others(63): Show CTGCATCTAGAATAAAATGCAAGCCCCTTATCATGGCTTCCAAGGTGCTC AAACTCAGTGCCTCTCATCGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA20300.hp2 HG01109.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0003 a0001c0001t0006 a0001c0002t0003	a0001c0001t0006g0258 a0001c0002t0003g0277 a0001c0001t0006g0258 a0001c0002t0003g0277	2	334	0.0060	-70	c.53- others(87): Show c.53-17469_53-17400delACGATGAGAGGCACTGAGTTTGAGCACC TTGGAAGCCATGATAAGGGGCTTGCATTTTATTCTAGATGCA	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNK2_chr1_215077737_215242090	215093763	TAATATAA others(63): Show TAATATAAAATATATTATATATTATATATTATATAATATAAAATATATTA TATATTATATATTATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	260	0.0039	-70	c.357 others(87): Show c.357+7092_357+7161delAAATATATTATATATTATATATTATATA ATATAAAATATATTATATATTATATATTATATATAAAATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KHSRP_chr19_6408102_6429811	6429028	TATATATA others(63): Show TATATATATATAATATATATATTATATATATGTTATATATATATATAATA TATATATTATATATATGTTAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0047 a0001c0001t0036g0047	1	386	0.0026	-70	c.-43 others(81): Show c.-4397_-4328delGTAACATATATATAATATATATATTATATATATA TATAACATATATATAATATATATATTATATATATAT	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4218		chr19	TogoVar
KIF15_chr3_44756794_44858256	44829643	TTATATAT others(63): Show TTATATATGTATATATTATGTATATATAATATATGTATATATATTATAGA TGTATATATATTATAGATGTA	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04199.hp1 HG02735.hp2 HG04199.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0187 a0002c0001t0001g0188 a0002c0001t0001g0187 a0002c0001t0001g0188	2	232	0.0086	-70	c.294 others(87): Show c.2944-320_2944-251delGTATATATTATGTATATATAATATATGT ATATATATTATAGATGTATATATATTATAGATGTATATATAT	KIF15	ENSG00000163808.17	transcript	ENST00000326047.9	protein_coding	24/34		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIF26B_chr1_245149985_245714432	245270259	CTTCCTTT others(63): Show CTTCCTTTCCCTTCCTTTCCTTCTTTCCTTCCCTTCCCTTCCATCTTCCC TTCCCCTCCTTCACTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00609.hp1 others(66): Show HG00408.hp1 HG00408.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02109.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp2 HG02630.hp1 HG02698.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03704.hp2 HG03710.hp2 HG04115.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18952.hp2 NA18971.hp1 NA18971.hp2 NA18999.hp2 NA19002.hp1 NA19004.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19074.hp2 NA19085.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010 a0015 a0019	a0001c0001 a0001c0002 a0001c0004 others(29): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0014 a0001c0022 a0001c0044 a0001c0046 a0001c0047 a0001c0048 a0001c0051 a0001c0053 a0002c0003 a0002c0008 a0002c0056 a0003c0006 a0003c0027 a0003c0028 a0003c0029 a0003c0030 a0003c0031 a0004c0019 a0005c0058 a0008c0062 a0010c0021 a0015c0037 a0019c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(58): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0025 a0001c0001t0036 a0001c0001t0037 a0001c0001t0061 a0001c0001t0063 a0001c0001t0064 a0001c0001t0067 a0001c0001t0087 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0019 a0001c0002t0053 a0001c0004t0001 a0001c0004t0007 a0001c0004t0013 a0001c0004t0040 a0001c0004t0088 a0001c0005t0007 a0001c0007t0016 a0001c0009t0012 a0001c0009t0051 a0001c0010t0015 a0001c0010t0026 a0001c0010t0062 a0001c0012t0082 a0001c0013t0001 a0001c0014t0001 a0001c0022t0055 a0001c0044t0013 a0001c0046t0057 a0001c0047t0009 a0001c0048t0017 a0001c0051t0047 a0001c0053t0052 a0002c0003t0004 a0002c0003t0022 a0002c0003t0070 a0002c0008t0004 a0002c0008t0006 a0002c0056t0034 a0003c0006t0002 a0003c0006t0021 a0003c0006t0068 a0003c0027t0033 a0003c0028t0003 a0003c0029t0015 a0003c0030t0074 a0003c0031t0076 a0004c0019t0058 a0005c0058t0079 a0008c0062t0086 a0010c0021t0017 a0015c0037t0069 a0019c0034t0007	a0001c0001t0001g0151 a0001c0001t0002g0020 a0001c0001t0002g0046 others(66): Show a0001c0001t0001g0151 a0001c0001t0002g0020 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0006g0104 a0001c0001t0008g0052 a0001c0001t0009g0120 a0001c0001t0011g0084 a0001c0001t0025g0072 a0001c0001t0036g0138 a0001c0001t0037g0119 a0001c0001t0061g0031 a0001c0001t0063g0008 a0001c0001t0064g0042 a0001c0001t0067g0013 a0001c0001t0087g0087 a0001c0002t0001g0110 a0001c0002t0001g0125 a0001c0002t0003g0012 a0001c0002t0003g0032 a0001c0002t0005g0139 a0001c0002t0019g0144 a0001c0002t0053g0121 a0001c0004t0001g0093 a0001c0004t0007g0050 a0001c0004t0013g0103 a0001c0004t0040g0096 a0001c0004t0088g0051 a0001c0005t0007g0024 a0001c0007t0016g0054 a0001c0009t0012g0108 a0001c0009t0051g0090 a0001c0010t0015g0068 a0001c0010t0026g0060 a0001c0010t0062g0038 a0001c0012t0082g0130 a0001c0013t0001g0056 a0001c0014t0001g0055 a0001c0014t0001g0100 a0001c0022t0055g0137 a0001c0044t0013g0106 a0001c0046t0057g0079 a0001c0047t0009g0127 a0001c0048t0017g0114 a0001c0051t0047g0156 a0001c0053t0052g0126 a0002c0003t0004g0142 a0002c0003t0022g0006 a0002c0003t0022g0155 a0002c0003t0070g0065 a0002c0008t0004g0105 a0002c0008t0006g0095 a0002c0056t0034g0141 a0003c0006t0002g0041 a0003c0006t0002g0044 a0003c0006t0021g0025 a0003c0006t0021g0066 a0003c0006t0068g0007 a0003c0027t0033g0122 a0003c0028t0003g0011 a0003c0029t0015g0073 a0003c0030t0074g0021 a0003c0031t0076g0030 a0004c0019t0058g0111 a0005c0058t0079g0043 a0008c0062t0086g0148 a0010c0021t0017g0113 a0015c0037t0069g0048 a0019c0034t0007g0159	69	160	0.4313	-70	c.466 others(89): Show c.466-96560_466-96491delTTTCCTTCTTTCCTTCCCTTCCCTTC CATCTTCCCTTCCCCTCCTTCACTTCCTTTTTCCTTTCCCTTCC	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF4A_chrX_70285104_70425886	70373648	GTATATAT others(63): Show GTATATATATACGTATATATATACATATATACGTGTATATATATACGTAT ATATATACACATATACGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02683.hp1 HG03130.hp1 others(3): Show HG02602.hp1 HG02683.hp1 HG03130.hp1 HG03942.hp1 NA18947.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0175 others(3): Show a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0175 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0250	6	259	0.0232	-70	c.167 others(87): Show c.1675-494_1675-425delTACGTATATATATACATATATACGTGTA TATATATACGTATATATATACACATATACGTGTATATATATA	KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	15/30		INFO_REALIGN_3_PRIME	chrX	TogoVar
KLK4_chr19_50901351_50916395	50913560	CTCTGTCC others(63): Show CTCTGTCCATCTTTCTCTGTGTCTCTCTCCTCCCATCTCTGTCTCTGTCT CTCTGTCTGTCTCCGCACCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19087.hp1 NA19009.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	2	414	0.0048	-70	c.-23 others(81): Show c.-2303_-2234delCAGGTGCGGAGACAGACAGAGAGACAGAGACAGA GATGGGAGGAGAGAGACACAGAGAAAGATGGACAGA	KLK4	ENSG00000167749.12	transcript	ENST00000324041.6	protein_coding		2166		chr19	TogoVar
KRTAP21-2_chr21_30741794_30752259	30743506	ATATATAT others(63): Show ATATATATACGAATATATATACGAATATATATACGTATATATATACGTAT ATATACACGAATATATATACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA19082.hp2 NA18943.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	2	380	0.0053	-70	c.33 others(81): Show c.3375_*3444delCGTATATATATTCGTGTATATATACGTATATATA TACGTATATATATTCGTATATATATTCGTATATATA	KRTAP21-2	ENSG00000187026.3	transcript	ENST00000333892.3	protein_coding		3287		chr21	TogoVar
KRTAP5-7_chr11_71522267_71533669	71522539	CGCTGGTG others(63): Show CGCTGGTGACACGTTGCCGTATTCTTGGGCGAGTACGCTGGTGACACGTT GCCGTATTCTTGGGCCAGTAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	460	0.0022	-70	c.-47 others(81): Show c.-4761_-4692delGCTGGTGACACGTTGCCGTATTCTTGGGCGAGTA CGCTGGTGACACGTTGCCGTATTCTTGGGCCAGTAG	KRTAP5-7	ENSG00000244411.4	transcript	ENST00000398536.6	protein_coding		4727		chr11	TogoVar
L3MBTL4_chr18_5949717_6419911	6003021	AAGTATCT others(63): Show AAGTATCTCTATTTATAGAGATACTATATAAAATATAGTATCTCTATTTA TAGAGATACTATATAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01952.hp1 HG02257.hp2 others(19): Show HG01243.hp1 HG01952.hp1 HG02257.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02922.hp2 HG02970.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA19002.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0002c0002 a0004c0009 a0005c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0003t0002 a0001c0003t0005 a0001c0004t0006 a0001c0007t0002 a0001c0008t0009 a0002c0002t0001 a0004c0009t0002 a0005c0010t0002	a0001c0001t0002g0033 a0001c0001t0002g0052 a0001c0001t0002g0072 others(19): Show a0001c0001t0002g0033 a0001c0001t0002g0052 a0001c0001t0002g0072 a0001c0001t0003g0023 a0001c0001t0004g0076 a0001c0001t0005g0094 a0001c0003t0002g0056 a0001c0003t0002g0058 a0001c0003t0005g0002 a0001c0004t0006g0087 a0001c0007t0002g0081 a0001c0008t0009g0009 a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0013 a0002c0002t0001g0032 a0002c0002t0001g0054 a0002c0002t0001g0073 a0002c0002t0001g0084 a0002c0002t0001g0090 a0004c0009t0002g0012 a0005c0010t0002g0089	22	94	0.2340	-70	c.144 others(91): Show c.1445-33529_1445-33460delATATTTTATATAGTATCTCTATAA ATAGAGATACTATATTTTATATAGTATCTCTATAAATAGAGATACT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18			chr18	TogoVar
LAMB1_chr7_107918799_108008161	107976854	CCTCTCCT others(63): Show CCTCTCCTTCCTTCCTTCCTTTCCTCTTGCTCCTTCCTTCCTTTCCTCTT GCTCCTTCCTTCCTTTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG01106.hp2 others(23): Show HG00738.hp1 HG00738.hp2 HG01106.hp2 HG01243.hp1 HG01433.hp1 HG01891.hp2 HG02080.hp1 HG02109.hp1 HG02257.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02818.hp2 HG02895.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03486.hp2 HG03579.hp1 HG03579.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0011 a0018	a0001c0001 a0001c0007 a0001c0014 others(14): Show a0001c0001 a0001c0007 a0001c0014 a0001c0022 a0001c0044 a0002c0003 a0002c0026 a0004c0015 a0004c0016 a0004c0066 a0004c0067 a0004c0068 a0004c0069 a0005c0012 a0005c0065 a0011c0025 a0018c0047	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0001c0014t0003 a0001c0022t0001 a0001c0044t0002 a0002c0003t0002 a0002c0026t0002 a0004c0015t0001 a0004c0015t0002 a0004c0016t0001 a0004c0066t0004 a0004c0067t0001 a0004c0068t0001 a0004c0069t0001 a0005c0012t0002 a0005c0065t0001 a0011c0025t0001 a0018c0047t0003	a0001c0001t0001g0048 a0001c0001t0002g0047 a0001c0007t0001g0009 others(23): Show a0001c0001t0001g0048 a0001c0001t0002g0047 a0001c0007t0001g0009 a0001c0007t0001g0319 a0001c0014t0003g0360 a0001c0022t0001g0039 a0001c0044t0002g0345 a0002c0003t0002g0347 a0002c0026t0002g0352 a0004c0015t0001g0138 a0004c0015t0001g0140 a0004c0015t0002g0008 a0004c0016t0001g0332 a0004c0016t0001g0354 a0004c0016t0001g0355 a0004c0066t0004g0021 a0004c0067t0001g0137 a0004c0068t0001g0139 a0004c0069t0001g0134 a0005c0012t0002g0135 a0005c0012t0002g0323 a0005c0012t0002g0353 a0005c0065t0001g0147 a0011c0025t0001g0141 a0011c0025t0001g0340 a0018c0047t0003g0359	26	364	0.0714	-70	c.100 others(88): Show c.1001-1047_1001-978delAGAGGAAAGGAAGGAAGGAGCAAGAGG AAAGGAAGGAAGGAGCAAGAGGAAAGGAAGGAAGGAAGGAGAG	LAMB1	ENSG00000091136.15	transcript	ENST00000222399.11	protein_coding	9/33			chr7	TogoVar
LAT2_chr7_74205006_74234834	74214559	AATATATA others(63): Show AATATATATATATGAAAATATATATATAAATATATATATGAAAATATATA TAAATATATATATGAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19079.hp1 HG02145.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0026 a0001c0001t0001g0042	2	344	0.0058	-70	c.-21 others(87): Show c.-218-235_-218-166delAATATATATATGAAAATATATATAAATA TATATATGAATATATATATATATATATGAAAATATATATATA	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LCP1_chr13_46120923_46187177	46162985	CGGCAGCC others(63): Show CGGCAGCCGCCCCGTCGGGGAGGGAGGTGGGGGGCAGCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGA	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0078 a0001c0003t0004g0078	1	382	0.0026	-70	c.-24 others(87): Show c.-24-3369_-24-3300delTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGCTGCCCCCCACCTCCCTCCCCGACGGGGCGGCTGCC	LCP1	ENSG00000136167.15	transcript	ENST00000323076.7	protein_coding	1/15			chr13	TogoVar
LDHAL6A_chr11_18450856_18484601	18467956	CGTATATA others(63): Show CGTATATATATACGTATATATATACGTATATATATGCATATATATACGTA TATATATACATATATATACGT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18944.hp2 NA19007.hp1 HG02630.hp2 NA18944.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0142 a0001c0001t0003g0081 a0001c0001t0003g0235 a0001c0001t0002g0142 a0001c0001t0003g0081 a0001c0001t0003g0235	3	420	0.0071	-70	c.418 others(87): Show c.418+2147_418+2216delGTATATATATACGTATATATATACGTAT ATATATGCATATATATACGTATATATATACATATATATACGT	LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	3/6			chr11	TogoVar
LMF1_chr16_848634_975984	858613	CAGTGGTG others(63): Show CAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCACGGGACGGGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0078 a0001c0004t0005g0078	1	294	0.0034	-70	c.153 others(89): Show c.1530-3977_1530-3908delCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LPP_chr3_188149157_188895671	188784518	CATATATA others(63): Show CATATATATATATTCCATCATATATATATATTCCATCATATATATATTCC ATCATATATATATTCCATCAT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0019 a0001c0001t0051g0019	1	76	0.0132	-70	c.141 others(91): Show c.1410+24247_1410+24316delATTCCATCATATATATATATTCCA TCATATATATATTCCATCATATATATATTCCATCATATATATATAT	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRBA_chr4_150259435_151020284	150639749	ATATATAT others(63): Show ATATATATATATATATATATATATATATATATATGTGTGTGTGTATATAT ATATATATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02155.hp2 HG02165.hp1 HG02129.hp1 HG02155.hp2 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0034	3	180	0.0167	-70	c.592 others(91): Show c.5922-40688_5922-40619delCACACACACACACATATATATATA TATACACACACACATATATATATATATATATATATATATATATATA	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LRRC7_chr1_69562922_70149364	69781724	AAAGAAAG others(63): Show AAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAG AAAGAAAGAAAGAAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0029 a0001c0001t0026g0029	1	108	0.0093	-70	c.304 others(89): Show c.304-10315_304-10246delAAAGAAAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAG	LRRC7	ENSG00000033122.21	transcript	ENST00000651989.2	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
LRRTM4_chr2_76742685_77527376	77307647	TCTATATA others(63): Show TCTATATATTATAGAAATATAAATATATAGATATATCTATATATTATAGA AATATAAATATATAGATATAC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0058 a0001c0001t0004g0058	1	128	0.0078	-70	c.155 others(93): Show c.1551+210601_1551+210670delGTATATCTATATATTTATATTT CTATAATATATAGATATATCTATATATTTATATTTCTATAATATATAG	LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3			chr2	TogoVar
LRRTM4_chr2_76742685_77527376	77307682	TCTATATA others(63): Show TCTATATATTATAGAAATATAAATATATAGATATACCTATATATTATAGA AATATAAATATATAGATATAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG02135.hp2 others(11): Show HG00735.hp1 HG01109.hp2 HG02135.hp2 HG02622.hp2 HG02965.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18983.hp1 NA18983.hp2 NA19011.hp1 NA19065.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0011 a0001c0001t0001g0053 a0001c0001t0001g0062 others(11): Show a0001c0001t0001g0011 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0089 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0002g0012 a0001c0001t0002g0051 a0001c0001t0002g0075 a0001c0001t0002g0079 a0001c0001t0002g0087 a0001c0001t0003g0061 a0001c0001t0004g0010 a0001c0001t0006g0034	14	128	0.1094	-70	c.155 others(93): Show c.1551+210566_1551+210635delGTATATCTATATATTTATATTT CTATAATATATAGGTATATCTATATATTTATATTTCTATAATATATAG	LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3			chr2	TogoVar
LSG1_chr3_194635791_194677191	194645531	GACAGACA others(63): Show GACAGACACACACACACACACACACACACACACACACACAGACAGACACA CACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0048 a0001c0003t0048	a0001c0003t0048g0143 a0001c0003t0048g0143	1	408	0.0025	-70	c.162 others(87): Show c.1623+563_1623+632delGTGTGTGTGTGTGTGTGTGTGTGTGTCT GTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	12/13			chr3	TogoVar
LSS_chr21_46183446_46233774	46183834	GGGAGACC others(63): Show GGGAGACCAGCCTGCGGGGGAGACCAGCCTGGGCGGGGAGATCAGCCTGG GGGAGGAGACCAGCCTGGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00544.hp2 others(82): Show HG00140.hp1 HG00323.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp2 HG01123.hp2 HG01192.hp1 HG01346.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02273.hp1 HG02559.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG03017.hp1 HG03017.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04228.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18951.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18965.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18975.hp2 NA18979.hp1 NA18991.hp1 NA18998.hp1 NA18999.hp2 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0013 a0014	a0001c0001 a0001c0004 a0001c0005 others(10): Show a0001c0001 a0001c0004 a0001c0005 a0002c0002 a0002c0012 a0002c0016 a0002c0018 a0002c0021 a0002c0023 a0002c0025 a0003c0003 a0013c0019 a0014c0024	a0001c0001t0001 a0001c0004t0003 a0001c0005t0006 others(13): Show a0001c0001t0001 a0001c0004t0003 a0001c0005t0006 a0002c0002t0002 a0002c0002t0013 a0002c0002t0021 a0002c0002t0029 a0002c0012t0002 a0002c0016t0002 a0002c0018t0002 a0002c0021t0002 a0002c0023t0002 a0002c0025t0002 a0003c0003t0001 a0013c0019t0002 a0014c0024t0013	a0001c0001t0001g0027 a0001c0004t0003g0025 a0001c0005t0006g0261 others(64): Show a0001c0001t0001g0027 a0001c0004t0003g0025 a0001c0005t0006g0261 a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0061 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0083 a0002c0002t0002g0086 a0002c0002t0002g0089 a0002c0002t0002g0091 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0265 a0002c0002t0013g0084 a0002c0002t0013g0085 a0002c0002t0021g0062 a0002c0002t0029g0082 a0002c0012t0002g0020 a0002c0012t0002g0111 a0002c0016t0002g0090 a0002c0016t0002g0092 a0002c0018t0002g0046 a0002c0021t0002g0116 a0002c0023t0002g0095 a0002c0025t0002g0102 a0003c0003t0001g0220 a0013c0019t0002g0112 a0014c0024t0013g0101	85	358	0.2374	-70	c.72 others(81): Show c.7200_*7269delTCACCAGGCTGGTCTCCTCCCCCAGGCTGATCTC CCCGCCCAGGCTGGTCTCCCCCGCAGGCTGGTCTCC	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		4611		chr21	TogoVar
LYPD8_chr1_248734415_248760759	248742283	CGGGGGAG others(63): Show CGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGTCGGGGGAGATTATG CTCTGGTGGGGATGTTGGCAG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02723.hp1 HG02970.hp1 others(6): Show HG02622.hp2 HG02723.hp1 HG02970.hp1 HG03098.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 a0001c0001t0001 a0001c0001t0004 a0001c0005t0001	a0001c0001t0001g0135 a0001c0001t0001g0186 a0001c0001t0001g0187 others(5): Show a0001c0001t0001g0135 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0254 a0001c0001t0004g0089 a0001c0005t0001g0037	9	374	0.0241	-70	c.476 others(87): Show c.476-2504_476-2435delCTGCCAACATCCCCACCAGAGCATAATC TCCCCCGACTGCCAACATCCCCACCAGAGCATAATCTCCCCC	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
MAEA_chr4_1284891_1345137	1324826	GTGGATGA others(63): Show GTGGATGAGCGTGCCTGGTGTTGGATGAGTTGAGATTGGATGAGCGTGCC TGGTGTTGGATGAGTTGAGAT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0006 a0001c0007t0005g0006	1	388	0.0026	-70	c.579 others(87): Show c.579+2386_579+2455delGTTGAGATTGGATGAGCGTGCCTGGTGT TGGATGAGTTGAGATTGGATGAGCGTGCCTGGTGTTGGATGA	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAK_chr6_10757723_10843539	10787012	GCACCAGT others(63): Show GCACCAGTTCACCTCCTATTCACCACTCCGCTAATGCACCAGTTCACCTC CTATTCACCACTCCGCTACTT	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0152 a0001c0002t0003g0152	1	272	0.0037	-70	c.131 others(89): Show c.1317-2510_1317-2441delAAGTAGCGGAGTGGTGAATAGGAGGT GAACTGGTGCATTAGCGGAGTGGTGAATAGGAGGTGAACTGGTG	MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	10/14			chr6	TogoVar
MARF1_chr16_15589387_15648154	15589435	AGCCAGAC others(63): Show AGCCAGACTCTTCGTGTACTGGGGATGCCATAATGAATGACCTTCTACTG GGTGACTTAAAACAGTGGAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	393	0.0025	-70	c.71 others(81): Show c.7188_*7257delGTTCCACTGTTTTAAGTCACCCAGTAGAAGGTCA TTCATTATGGCATCCCCAGTACACGAAGAGTCTGGC	MARF1	ENSG00000166783.22	transcript	ENST00000396368.8	protein_coding		4951		chr16	TogoVar
MBD3L4_chr19_7032749_7045179	7035880	ATATATAA others(63): Show ATATATAATATAATTCTATAACATATAAATTATATTATATATAATATAAT TATATAACATATAAATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00642.hp2 HG00733.hp2 others(69): Show HG00544.hp2 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01192.hp2 HG01255.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02080.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02273.hp2 HG02602.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp2 NA18612.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18950.hp2 NA18952.hp1 NA18960.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18979.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18998.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19043.hp2 NA19058.hp1 NA19065.hp1 NA19070.hp2 NA19072.hp1 NA19088.hp1 NA20752.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0017 a0012c0021 a0001c0001 a0002c0017 a0012c0021	a0001c0001t0001 a0002c0017t0002 a0012c0021t0006 a0001c0001t0001 a0002c0017t0002 a0012c0021t0006	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0016 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0050 a0002c0017t0002g0030 a0012c0021t0006g0053	72	262	0.2748	-70	c.19 others(81): Show c.1911_*1980delATATAATTTATATGTTATATAATTATATTATATA TAATATAATTTATATGTTATAGAATTATATTATATA	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		1868		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035880	ATATATAA others(63): Show ATATATAATATAATTCTATAACATATAAATTATATTATATATAATATAAT TATATAACATATAAATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00642.hp2 others(63): Show HG00423.hp1 HG00544.hp2 HG00642.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02258.hp1 HG02273.hp1 HG02300.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02895.hp1 HG03710.hp2 HG03942.hp2 HG04184.hp1 NA18612.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18950.hp1 NA18952.hp1 NA18960.hp1 NA18966.hp1 NA18970.hp2 NA18971.hp1 NA18979.hp2 NA18984.hp1 NA18991.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19058.hp1 NA19070.hp2 NA19072.hp1 NA19078.hp1 NA19078.hp2 NA19085.hp2 NA19088.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0002c0008t0001 a0001c0001t0001 a0002c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0002c0008t0001g0001 a0002c0008t0001g0021	66	249	0.2651	-70	c.29 others(81): Show c.2987_*3056delTATATAATATAATTCTATAACATATAAATTATAT TATATATAATATAATTATATAACATATAAATTATAT	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2870		chr19	TogoVar
MBNL1_chr3_152263929_152470780	152286412	TTATATTT others(63): Show TTATATTTTATTTATAATATAAATATTTATATTTTATTTATAATATAAAT ATATTTTATTTATAATATAAA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	338	0.0030	-70	c.-78 others(91): Show c.-789-12919_-789-12850delATTTTATTTATAATATAAATATTT ATATTTTATTTATAATATAAATATATTTTATTTATAATATAAATAT	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBP_chr18_76973833_77137783	77018353	CATACACA others(63): Show CATACACATACCCACCTACCCATCCATCCATCCATCCCCCATCCACTCAT CCATCCACCCACCCACCATCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(75): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01261.hp1 HG01433.hp2 HG01496.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG02071.hp2 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp1 HG02602.hp1 HG02738.hp1 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03654.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04204.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18990.hp1 NA18997.hp1 NA19002.hp1 NA19006.hp2 NA19011.hp2 NA19057.hp1 NA19058.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19080.hp1 NA19086.hp1 NA19089.hp1 NA19091.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0028 a0001c0001t0053 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0027	a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0087 others(74): Show a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0087 a0001c0001t0001g0109 a0001c0001t0001g0177 a0001c0001t0002g0242 a0001c0001t0002g0248 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0002g0328 a0001c0001t0003g0026 a0001c0001t0003g0036 a0001c0001t0003g0051 a0001c0001t0003g0055 a0001c0001t0003g0058 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0084 a0001c0001t0003g0094 a0001c0001t0003g0099 a0001c0001t0003g0121 a0001c0001t0003g0173 a0001c0001t0003g0186 a0001c0001t0004g0020 a0001c0001t0004g0040 a0001c0001t0004g0078 a0001c0001t0004g0107 a0001c0001t0004g0119 a0001c0001t0004g0132 a0001c0001t0005g0001 a0001c0001t0005g0232 a0001c0001t0005g0308 a0001c0001t0006g0233 a0001c0001t0006g0243 a0001c0001t0006g0246 a0001c0001t0006g0250 a0001c0001t0006g0270 a0001c0001t0006g0322 a0001c0001t0006g0324 a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0007g0374 a0001c0001t0008g0344 a0001c0001t0008g0346 a0001c0001t0008g0355 a0001c0001t0008g0356 a0001c0001t0008g0359 a0001c0001t0008g0367 a0001c0001t0008g0375 a0001c0001t0009g0072 a0001c0001t0009g0180 a0001c0001t0014g0317 a0001c0001t0016g0350 a0001c0001t0028g0389 a0001c0001t0053g0392 a0001c0002t0001g0089 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0106 a0001c0002t0001g0110 a0001c0002t0001g0154 a0001c0002t0001g0156 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0185 a0001c0002t0001g0195 a0001c0002t0002g0238 a0001c0002t0002g0258 a0001c0002t0002g0279 a0001c0002t0002g0290 a0001c0002t0002g0315 a0001c0002t0007g0345 a0001c0002t0007g0351 a0001c0002t0007g0383 a0001c0002t0027g0390	78	396	0.1970	-70	c.140 others(87): Show c.140-1155_140-1086delAGATGGTGGGTGGGTGGATGGATGAGTG GATGGGGGATGGATGGATGGATGGGTAGGTGGGTATGTGTAT	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MC1R_chr16_89913862_89925972	89914719	GTGTGTGT others(63): Show GTGTGTGTGTGTGCCTGTGTGTGTGGGTGCACATTTGTGTGTGTGTGTGC CTGTGTGTGTGGGTGCACATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG01070.hp1 others(9): Show HG00099.hp1 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01109.hp2 HG01123.hp2 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG01978.hp2 HG02738.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0001 a0001c0001t0006 a0002c0002t0001	a0001c0001t0006g0000 a0002c0002t0001g0000 a0001c0001t0006g0000 a0002c0002t0001g0000	12	396	0.0303	-70	c.-45 others(81): Show c.-4539_-4470delTGTGTGTGTGTGCCTGTGTGTGTGGGTGCACATT TGTGTGTGTGTGTGCCTGTGTGTGTGGGTGCACATT	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		4142		chr16	TogoVar
MCF2L_chr13_112964214_113104742	113089250	CGGGTTTA others(63): Show CGGGTTTAACTTAGAAGTGTGTGGCCCCTCAGAAGCAGGAGGGTGGGCAT CTGCTCTCATCCAGCCCGTCT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02293.hp2 HG06807.hp1 HG00733.hp1 HG02293.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0029 a0001c0002t0002 a0001c0005t0029	a0001c0002t0002g0003 a0001c0002t0002g0093 a0001c0005t0029g0091 a0001c0002t0002g0003 a0001c0002t0002g0093 a0001c0005t0029g0091	3	116	0.0259	-70	c.283 others(87): Show c.2835-312_2835-243delATCTGCTCTCATCCAGCCCGTCTGGGTT TAACTTAGAAGTGTGTGGCCCCTCAGAAGCAGGAGGGTGGGC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCTP1_chr5_94698690_95290094	94953923	AATATATG others(63): Show AATATATGCATATATATACAAATATATATGCATATATATACAAATATATA TATGCATATATATACAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	98	0.0102	-70	c.839 others(85): Show c.839-632_839-563delATATTTGTATATATATGCATATATATATTT GTATATATATGCATATATATTTGTATATATATGCATATAT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	2/22			chr5	TogoVar
MECOM_chr3_169078507_169668712	169472533	AAAAGGAA others(63): Show AAAAGGAAAGGAAAGGAAAAGAAAAGAGAGGAGAGGAGAGGAGAGGAGAG GAAAGGAAAGGAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0135 a0001c0001t0007g0135	1	160	0.0063	-70	c.38- others(87): Show c.38-91079_38-91010delCCTTTCCTTTCCTTTCCTTTCCTCTCCT CTCCTCTCCTCTCCTCTCTTTTCTTTTCCTTTCCTTTCCTTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MED12L_chr3_151080664_151441653	151368624	TATTTTAT others(63): Show TATTTTATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTT CATGTCATTTCATTTTATTTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00140.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0164 a0001c0002t0006g0181 a0001c0002t0006g0164 a0001c0002t0006g0181	2	280	0.0071	-70	c.355 others(87): Show c.3550+378_3550+447delTATTTCATTTCATTTCATTTCATTTCAT TTCATTTCATTTCATTTCATGTCATTTCATTTTATTTCATTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr3	TogoVar

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